Cleft Lip and Palate Diagnosis and Management

Editor

Cleft Lip and Palate Samuel Berkowitz

Editor Samuel Berkowitz

Cleft Lip and Palate 2nd Edition

With 478 Figures, Mostly in Color, and 46 Tables

123

Editor Samuel Berkowitz, DDS, MS, FICD Diplomate, American Board of Orthodontics Maxillo-Mandibular Reconstruction Cranio Facial Orthopedics The Professional Center – Suite 112 6601 S.W. 80 St. South Miami, FL 33143, USA

First edition published by Singular Publishing Group, San Diego London, 1996

ISBN-10 3-540-23409-8 Springer Berlin Heidelberg New York ISBN-13 978-3-540-23409-8 Springer Berlin Heidelberg New York

Library of Congress Control Number: 2005931255 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. Springer is a part of Springer Science + Business Media springeronline.com © Springer-Verlag Berlin Heidelberg 2006 Printed in Germany

The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature. Editor: Gabriele Schröder, Springer-Verlag, Heidelberg Desk editor: Martina Himberger, Springer-Verlag, Heidelberg Production: ProEdit GmbH, Elke Beul-Göhringer, Heidelberg Cover design: Estudio Calamar, F. Steinen-Broo, Pau/Girona, Spain Typesetting and reproduction of the figures: AM-productions GmbH, Wiesloch Printed on acid-free paper 24/3151beu-göh 5 4 3 2 1 0

V

Dedication

My professional growth has been nurtured by my understanding wife, Lynn, who made it possible for me to spend endless uninterrupted evenings at my desk, while at the same time encouraging me to “stay with it.” Warm hugs to my two daughters, Beth and Debra, Ruben and Edward, and my eight grandchildren for their endless expressions of support and love. Last, but by no means least, I cannot say enough for the countless children with various palatal and facial clefts whom I have treated over the past four decades and for their understanding parents. This book is ded-

icated to all of them as a token of my appreciation for their enduring perseverance and fortitude. My young patients have taught me much about the human spirit and the joy that can spring from surmounting nature’s adversities. Finally, my work was made possible by the support of J. Ralph Millard Jr., who appreciated the value of serial records starting at birth. He and I have differed on a few areas of treatment, but we strongly agreed that only through the analyses of objective growth records could progress in treatment be accomplished.

VII

About the Editor

Dr. Berkowitz, an orthodontist, was a Clinical Professor of Pediatrics and Surgery associated with the South Florida Craniofacial Anomalies Program at the University of Miami School of Medicine. Currently he is Adjunct Clinical Professor at Nova Southeastern University College of Dentistry – Orthodontic Department, and Adjunct Clinical Professor of Orthodontics at the University of Illinois College of Dentistry. His main goal is to develop teaching materials in cleft palate for professionals in plastic and oral surgery, orthodontics, and speech language pathology. He is a past President of the American Cleft Palate Association Educational Foundation, and the Florida Cleft Palate Association, and is currently President of the Miami Craniofacial Anomalies Foundation. Dr. Berkowitz was active in the American Association of Orthodontics, Florida Cleft Palate Association, and The Edward Angle Society of Orthodontists. He has published widely in medical and cleft palate journals and is the author of Volume I and the editor of Volume II of Cleft Lip and Palate Perspectives In Management – First Edition; he coauthored Plastic Surgery of the Facial Skeleton with S.A Wolfe, M.D, and wrote The Cleft Palate Story for parents of a child born with a cleft. Dr. Berkowitz is a popular speaker on cleft lip/palate topics and has presented many workshops and seminars in the USA and abroad. His research interest focuses on improving surgical-orthodontic treatment planning for cleft lip and palate children as well as those with other craniofacial anomalies. Currently, Dr. Berkowitz is project director of a clinical research program that is studying the long-term effects of various surgical treatment procedures on palatal and facial growth and development. He created a quantitative method for determining when to close the palatal cleft space, based on the 10% ratio of the cleft space to the area of the surrounding palatal surface medial to the alveolar ridges. He is creating a Power-Point lecture series for surgeons and

Samuel Berkowitz, DDS, MS, FICD

orthodontists to enable them to better understand and teach others the effects of surgery on the face from birth through adolescence. Dr. Berkowitz has been awarded the title “Honoree” by the Edward Angle Society of Orthodontists, and “Honoree” by the First World Congress of the

VIII

Comment

International Lip and Palate Foundation for his many contributions to the field of cleft lip and palate treatment. His extensive serial clinical records of dental casts, lateral cephaloradiographs, facial and intraoral photographs, and panorexes are going to the National

Museum of Health and Medicine (associated with Walter Reed Hospital’s Institute of Pathology in Washington D.C), where they will be available for continued study.

IX

Foreword

It is most gratifying to be able to write a foreword to this latest and most valuable addition to our compendium of knowledge about cleft lip and palate. The field has been close to my heart for over 50 years, even before I became Director of Research at Northwestern University’s Cleft Lip and Palate Institute in 1948. It has been my good fortune to be associated with some of the outstanding pioneers in the Team Effort approach – Herbert Cooper, Wayne Slaughter, Sam Pruzansky, J. Daniel Subtelny, Howard Aduss, Jack Thompson, Alan Brodie, Herbert Koepp-Baker, Harold Westlake, Fred Merrifield, Wilton Marion Krogman, Sam Berkowitz, Robert Ricketts, Margaret Hotz, Rudi Hotz, Arnold Huddart, Sheldon Rosenstein, Bengt Johansson, Hans Friede, Mohammed Mazaheri, Karin Vargervik, Samir Bishara, Donald Warren, Hughlett Morris, Morten Rosen, Charles Kremenak, Bill Olin, Ralph Millard Jr., Ralph Shelton, Ken Salyer, and many others in the U.S. and Europe. These dedicated and knowledgeable leaders in the field built a strong foundation of total service for patients unfortunate enough to develop this congenital defect. My own research in the growth and developmental aspects and the influence of therapeutic ministrations has been replicated and serves to remind us of the complexities of the biologic continuum and their interrelationships. My maxim always has been, “From the abnormal, we learn much about the normal.” Samuel Berkowitz wrote his master’s thesis in cleft palate under the supervision and guidance of Samuel Pruzansky at the Craniofacial Program at the Univer-

sity of Illinois School of Dentistry in 1959. From there he went to the University of Miami School of Medicine to help develop, with Dr. D. Ralph Millard Jr., Chief of Plastic Surgery, a craniofacial anomalies program and clinic (1960–1998). They collaborated in developing an extensive collection of longitudinal records of dental casts cephaloradiographs, panorexes, and photographs from birth to adolescence. Dr. Berkowitz’s main goal was to create lasting treatment concepts based on a better understanding of the natural history of cleft palate and facial growth and development. This book discusses in detail the resulting treatment concepts, which are supported by in-depth case analyses. Dr. Berkowitz has drawn on the experience an international array of scholars and practitioners – researchers, surgeons, orthodontists, speech therapists, pediatricians, obstetricians, psychologists, prosthodontists, pediatric dentists, otolaryngologists, audiologists, and others. He has carefully crafted and integrated the important contributions from each field, welding these diverse areas into a multidisciplinary team. These are described in the preface. There is no doubt in my mind that this work will become the standard reference for all who work in the field of craniofacial anomalies, as we move into the twenty-first century. T. M. Graber, DMD, MSD, PhD, Odont. Dr., DSc Editor of the International Journal of Orthodontics and Dentofacial Orthopedics

XI

Preface

In the first page of the first edition of this book, I quoted Samuel Pruzansky [1] who, after participating at an International Symposium on Cleft Lip and Palate held in 1969, and reflecting on what he heard at that meeting, stated, “The same tired questions have been asked as at every similar clinical meeting. And I despair at the general unfamiliarity with the pertinent literature.” Fortunately, since the 1950s, many clinical investigators in the field of cleft palate have performed excellent clinical studies of the management of cleft lip and palate that have contributed to the intellectual ferment over the last 50 years. To these studies we are indebted, since to know this literature is vital for correct treatment planning. When selecting significant references for this text, every attempt was made to carry out an exhaustive literature search to include all of the excellent articles on each subject covered. That, however, has been an insurmountable task. To investigators whose research articles were not included, I apologize and I advise readers to conduct their own literature search, which must include papers on the “opposing schools” of thought. There is no doubt in my mind that their final conclusions will be the same as mine when they consider the results of long-term palatal and facial growth studies that involved the analysis of objective records. To familiarize clinicians with the appropriate literature and its importance to the treatment of cleft lip and cleft palate, the chapters in this book are structured to improve clinicians’ understanding of the natural history of the cleft defect, the face in which it exists, the influence of surgery on palatal growth and development, and equally importantly in developing an appreciation for the heterogeneity that exists even within a single cleft type. These chapters will show that chronological age is not the parameter that really matters in determining the age at which to close the cleft in the palate. What is

important is morphologic age and physiologic fitness, that is, whether the tissues are adequate in quantity and quality and whether the geometric relationship of cleft parts is favorable or unfavorable for reconstruction. Some questions incident to growth, which date back 25 years, concern the relationship of the malformed palatal segments to the contiguous skeletal anatomy, which, in turn, may be anomalous. These following questions are also addressed: Are the palatal segments static in their deficiency or does the deficiency diminish in time, that is, is “catch-up-growth” a predictable phenomenon? And if so, what surgical procedures (as to age and type) make it possible? Many of Pruzansky’s thoughts, written so many years ago, still hold true today and are worth repeating. He stated that whoever sees things from their beginning will have the most advantageous view of them. To that end, most of the serial cases presented in this volume start soon after birth when plaster casts and photographs of the palatal and facial defect are taken. Serial lateral cephaloradiographs are added as soon as the child is manageable, and again taken periodically through adolescence. It is hoped that clinicians who are just beginning their involvement in cleft palate will learn the pathology and its natural history of cleft palate from the cases presented in this book and appreciate the need to keep careful records (casts, cephaloradiographs, photographs, and panorexes) which are of vital importance to both the processing of knowledge and selfcriticism. One last note of great importance – it is rare that two members of a team, such as I, an orthodontist, and D. Ralph Millard Jr., a plastic surgeon, can successfully work together even when some differences in treatment philosophy exist. We succeeded because we were professionally compatible and because we shared an obsessive need to determine why some procedures are successful and why others fail even when the same treatment procedures were used. Failures, we discov-

XII

Preface

ered, occur principally because of misinterpretation of physiological principles and/or a lack of technical proficiency. Dr. Millard understands the value of serial objective records dating from birth as the essential starting point in determining the long-term utility of any surgical cleft treatment program. Although I was always free to voice a contrary opinion as to what surgery should be performed (and when), our working relationship was based on recognizing the right of the surgeon to reject recommendations and follow his own dictates. And it was my right, as a member of a team involved in growth studies, to document the anatomical changes to the face and palate for future analysis. Respecting our mutual rights and responsibilities was no simple task. Strong emotional and conceptual barriers had to be overcome in the process of communicating with each other.

Our 40-year search for a better understanding of the natural history of cleft lip/palate growth and development and the effects of various surgical-orthodontic treatment procedures ultimately led Dr. Millard to a conservative approach of staged surgical treatment without the intercession of maxillary orthopedics with periosteoplasty, which he tried and found wanting.

References 1. Pruzansky S. Early treatment of cleft lip and palate. In Cole RM, (ed.) Proceedings of the Second International Symposium. Chicago: Cleft Lip and Cleft Palate Institute, Northwestern University School of Dentistry; 1969. p. 116. 2. Pruzansky S. Cleft lip and palate: therapy and prevention. J Am Dent Assoc 1973; 87(5):1048–1054.

XIII

Acknowledgments

I extend heartfelt thanks to my office staff, including Dr. Maria Camila Caro, Lesli Gagnon, Gillian Kelley, George Diaz, and Dr. Marta Mejia, all of whom shared in the preparation of the manuscript, to Juan Hernandez and Pedro Ibarra for their organizational and computer skills, and to Anna Belmonte and the late Francis Fink for their excellent cast photography. Special appreciation is extended to those who attended my Cleft Palate Seminar and contributed financial support to the Miami Craniofacial Anomalies Foundation.

Immeasurable thanks are likewise due to my many colleagues in the American Cleft Palate-Craniofacial Association and involved in various cleft palate clinics in Europe and Asia for contributing to my understanding of cleft lip and palate management. To them, too many to recognize by name, I shall be forever grateful for their professional knowledge and personal friendship.

XV

Introduction

The general aim of this volume is to present recognized experts from the clinical sciences of dentistry, medicine, speech, audiology, psychology, genetics, ethics, and biology, so that all aspects of the treatment of cleft palate and other craniofacial anomalies can be scrutinized from a particular point of view: long-term clinical experience. For the sake of brevity, many variations in cleft type and their treatment alluded to in this book were not presented. Because of the multiplicity of variables, no simple description or classification and treatment plan could possibly satisfy everyone concerned with this problem. Pruzansky [1] was once asked, “When should the orthodontist’s, speech pathologist’s, or prosthodontist’s interest in the cleft palate child begin? “His response: “The answer is quite clear. Everyone who seeks to serve the needs of the child with a cleft should begin at the beginning”. An interest in all events affecting these children is essential to the training and educational experience that each member of the team must obtain. Each specialist emerges not only better informed in his own field, but with an increased perspective regarding the means available for providing an integrated program of care for the handicapped child. The material presented examines the face with a cleft in all aspects as a biologic continuum from birth through postnatal growth and development to maturity at various stages of treatment. In the past several decades, many advances have taken place in cleft habilitation procedures. Unfortunately, many of these changes have not fulfilled all of their stated objectives, and in some instances, these procedures were found to be either injurious or at best unnecessary. These errors will be discussed in detail. This book also brings together clinicians and biological scientists from the United States, Asia, and

Europe, each of whom in his or her own way has been seeking answers to the multifaceted problem of cleft palate, regarding its embryopathogenesis, craniofacial growth, maxillary orthopedics, surgery, protraction of the maxilla, dental speech prostheses, secondary alveolar bone grafting, speech, hearing, genetics, psychosocial development, and craniofacial surgery. Each contributor presents pertinent concepts so that a broad perspective of the entire habilitative process can be obtained. The conclusions the reader will reach will be the result of well-documented literature of selected well-controlled clinical research that has withstood the test of review and re-examination. Because space limitations prevent thorough penetration of all aspects of each subject, a large bibliography is included for additional source material. In no way could these chapters be expected to cover all aspects of this complex subject. It is my hope that, through a better understanding of the cleft palate defect and face, all clinicians will be better able to evaluate present-day treatment practices and concepts to better plan their own treatment procedures. We fully acknowledge the important contributions made by the authors and research programs from the institutions which have strongly influenced much of what has been written in these volumes All lip and palate surgery of my cases were performed by Dr. Ralph Millard, Jr., except where otherwise indicated; S.A. Wolfe performed all skeletal surgery and secondary alveolar bone grafting. They both performed superior-based pharyngeal flaps. No presurgical orthopedics were used unless specifically indicated. Samuel Berkowitz, MS, DDS, FICD Editor

XVI

Introduction

References 1. Pruzansky S. Description, classification, and analysis of unoperated clefts of the lip and palate. Am J Orthod 1953; 39:590.

XVII

Contents

I

1

1.1

2

3.1

3.2

3.3.3.3 3.4

Developmental Biology and Morphogenesis of the Face, Lip and Palate Alphonse R. Burdi Summary . . . . . . . . . . . . . . . . . . . . . . . . .

9

References . . . . . . . . . . . . . . . . . . . . . . . .

10

Prenatal Diagnosis of Oral Clefts Jorge L. Gomez References . . . . . . . . . . . . . . . . . . . . . . . .

3

3.3.3.2

Facial Embryology and Neonatal Palatal Cleft Morphology

Serial Cephaloradiographs and Casts of the Maxillary and Mandibular Dentition and Occlusion . . . . . . . . . . . . . The Beginning of Longitudinal Cleft Palate Research Studies . . . . . . . .

3.3

Research Methods . . . . . . . . . . . . . . . . . .

3.3.1 3.3.2 3.3.3 3.3.3.1

Retrospective Studies . . . . . . . . . . . . . . . Prospective Studies . . . . . . . . . . . . . . . . . Clinical Trials . . . . . . . . . . . . . . . . . . . . . . Randomization of Surgical Procedures

The Need for Geometric and Quantitative Analysis of Cleft Palate Casts . . . . . . . . . . . . . . . . .

21

References . . . . . . . . . . . . . . . . . . . . . . . .

22

Facial and Palatal Growth Samuel Berkowitz

4.1

Maxillary and Mandibular Growth Concepts . . . . . . . . . . . . . . . . . . .

4.1.1

Newborn Palate with a Cleft of the Lip or Palate . . . . . . . . . . . . . . . . . . . . . . . . . . Genetic Control Theory: Craniofacial Growth is Entirely Predetermined . . . . . . . . . . . Functional Matrix Theory . . . . . . . . . . . Cartilage-Directed Growth: Nasal Septum Theory . . . . . . . . . . . . . . . Stimulation of Bone Growth – Is it Possible? . . . . . . . . . . . . . . . . . . . . . . The Need to Prevent Collapse . . . . . . . . Basion Horizontal Concept: The Direction of Facial Growth . . . . . .

15 4.1.3 4.1.4 4.1.4.1 4.1.4.2 4.1.5 17 4.2

20 20 20 20 20 20

21 21

4

4.1.2

The Value of Longitudinal Facial and Dental Casts Records in Clinical Research and Treatment Analysis Samuel Berkowitz

The Ethics of Surgical Retrospective Clinical Trials (RCT) . . . . . . . . . . . . . . . . Informed Consent . . . . . . . . . . . . . . . . . .

Mandibular Development in Cleft Palate . . . . . . . . . . . . . . . . . . . . . .

23 23 23 23 25 26 26 28 30

4.3

Patterns of Postnatal Growth . . . . . . . . .

4.3.1 4.3.2

Bone Remodeling During Growth . . . . Maxillary Growth . . . . . . . . . . . . . . . . . .

31 32 33

References . . . . . . . . . . . . . . . . . . . . . . . .

33

XVIII

Contents

5

Alternative Method Used to Correct Distorted Neonatal Cleft Arch Forms Samuel Berkowitz

5.1

6B.2

How the Palate Grows . . . . . . . . . . . . . . .

66

6B.3

Treatment Sequence . . . . . . . . . . . . . . . .

6B3.1

Usual Treatment Sequence . . . . . . . . . .

66 66

6B.4

Reports . . . . . . . . . . . . . . . . . . . . . . . . . . .

66

References . . . . . . . . . . . . . . . . . . . . . . . .

98

Effects of Reversing the Facial Force Diagram . . . . . . . . . . . .

35

5.2

Variations in the Palate’s Arch Form . . .

35

6C

5.3

Reversing Aberrant Cleft Facial Forces in the Neonate . . . . . . . . . . . . . . .

Complete Bilateral Cleft Lip and Palate Samuel Berkowitz

35

5.3.1

Lip Surgery, Elastic Traction, or Presurgical Orthodontic Treatment

6C.1

35

Premaxillary Protrusion: Real or Apparent. Is the Palate Deficient in Bone? . . . . . . .

References . . . . . . . . . . . . . . . . . . . . . . . .

40

II

Types of Clefts

99

6C.2

The Premaxillary-Vomerine Suture . . . . 102

6C.3

Facial Growth Studies Show That Midfacial Retrusion Is Not Predictable . . . . . . . . . . . . . . . . . . 105

6C.4

Long-Term Facial Growth Findings Show Class III Outcomes Are Not Predictable . . . . . . . . . . . . . . . . . 105

6

The Effect of Clefting of the Lip and Palate an the Palatal Arch Form Samuel Berkowitz

6.1

Varieties of Cleft Lip and Cleft Palate . .

43

6.1.1

Action of Intact Facial Muscular Forces an the Maxilary Arch . . . . . . . . .

6C.5

43

The Vomer Flap: Good or Bad? Are all Vomer Flaps the Same? . . . . . . . . 108

6C.5.1

Aberrant Muscle Forces in Clefts of the Lip and Palate . . . . . . . . . . . . . . . .

43

6C.5.2

External Elastics Attached to a Head Bonnet or Elastic Tape Strapped to the Cheeks . . . . . . . . . . . . . . . . . . . . . . 108 Uniting the Lip . . . . . . . . . . . . . . . . . . . . 109

6C.6

Profile Changes . . . . . . . . . . . . . . . . . . . . 109

6C.6.1

Why Some Premaxillae Continue to Project Following Lip Repair and Others Do Not . . . . . . . . . . . . . . . . . Dental Occlusion . . . . . . . . . . . . . . . . . . . After Birth . . . . . . . . . . . . . . . . . . . . . . . . In the Deciduous Dentition (3–6 Years of Age) . . . . . . . . . . . . . . . . . . Mixed Dentition (6–11 Years of Age) . . . . . . . . . . . . . . . . . At Adolescence . . . . . . . . . . . . . . . . . . . . Retention . . . . . . . . . . . . . . . . . . . . . . . . .

6.2 6.3

Categories of Clefts . . . . . . . . . . . . . . . . .

6.3.1 6.3.2 6.3.3 6.3.4

Clefts of the Lip . . . . . . . . . . . . . . . . . . . . Cleft Lip and Cleft Palate . . . . . . . . . . . . Isolated Cleft Palate . . . . . . . . . . . . . . . . Submucous Cleft Palate . . . . . . . . . . . . .

45 46 48 50 52

6.4

Congenital Palatal Insufficiency (CPI) . .

53

References . . . . . . . . . . . . . . . . . . . . . . . .

53

6A

Clefts of the Lip and Alveolus and Clefts of the Uvulae and Soft Palate Samuel Berkowitz

6A.1

Clefts of the Lip and Alveolus . . . . . . . .

55

6A.2

Clefts of the Uvulae and Soft Palate and Cleft of the Uvulae Alone . . . . . . . .

60

6B

6B.1

Facial Characteristics . . . . . . . . . . . . . . .

The Oslo Study . . . . . . . . . . . . . . . . . . . . Multicenter CUCLP Cephaloradiographic Study . . . . . . . . . . Reflection on Ross’ Excellent Multicenter Study . . . . . . . . .

6B1.3

6C.6.2.3 6C.6.2.4 6C.6.2.5 6C.7

113 113 113 118 118 118 119

The Following Case Studies Represent Conservative Surgical and Orthodontic Treatment Sequence . . . . . . . . . . . . . . . . 119 References . . . . . . . . . . . . . . . . . . . . . . . . 190

Complete Unilateral Cleft of the Lip and Palate Samuel Berkowitz

6B1.1 6B1.2

6C.6.2 6C.6.2.1 6C.6.2.2

63 64 64 65

6D

Isolated Cleft Palate Samuel Berkowitz

6E

Submucous Cleft Palate Samuel Berkowitz

Contents

7

Lip Pits; Orthodontic Treatment, Dentition and Occlusion; Associated Skeletal Structures Samuel Berkowitz

7.1

Lip Pits . . . . . . . . . . . . . . . . . . . . . . . . . . . 201

7.1.1

Pits of the Lower Lip in Cleft Lip and/or Palate – Genetic Considerations . . . . . . . . . . . . . Frequency . . . . . . . . . . . . . . . . . . . . . . . . . Morphology . . . . . . . . . . . . . . . . . . . . . . . Association with Other Malformations Inheritance . . . . . . . . . . . . . . . . . . . . . . . . Evidence of Heterogeneity . . . . . . . . . . .

7.1.2 7.1.3 7.1.4 7.1.5 7.1.6

III

201 201 202 203 204 204

7.2

Orthodontic Treatment, Dentition and Occlusion . . . . . . . . . . . . . . . . . . . . . 204

7.2.1 7.2.1.1 7.2.1.2 7.2.1.3

Crossbite Correction . . . . . . . . . . . . . . . Unilateral Cleft Lip and Palate . . . . . . . Bilateral Cleft Lip and Palate . . . . . . . . . Use of Orthopedic Forces to Correct Midfacial Recession . . . . . . . Supernumerary (Extra) Teeth, Missing Teeth, and Aplasia (Malformed Teeth) . . . . . . . . . . . . . . . . . Caries . . . . . . . . . . . . . . . . . . . . . . . . . . . .

7.2.2 7.2.3 7.3

7.3.1 7.3.2 7.3.3

XIX

204 207 208

9

Characteristics of Facial Morphology and Growth in Infants with Clefts Sven Kreiborg, Nuno V. Hermann, Tron A. Darvann

9.1

Introduction . . . . . . . . . . . . . . . . . . . . . . . 225

9.2

The Danish Experience . . . . . . . . . . . . . . Cleft Lip (CL) . . . . . . . . . . . . . . . . . . . . . . Cleft Palate (CP) . . . . . . . . . . . . . . . . . . . Robin Sequence (RS) . . . . . . . . . . . . . . . Cleft Lip and Palate (CLP) . . . . . . . . . . .

9.2.1 9.2.2 9.2.3 9.2.4 9.3

9.3.1

References . . . . . . . . . . . . . . . . . . . . . . . . 212

8

Pierre Robin Sequence Samuel Pruzansky, Julius B. Richmond

8.1

Growth of Mandible in Infants with Micrognathia . . . . . . . . . . . . . . . . . . 215

8.1.1 8.1.2 8.1.3

Case 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 216 Case 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 218 Case 3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 219

8.2

Comment . . . . . . . . . . . . . . . . . . . . . . . . . 221

8.3

Summary and Conclusions . . . . . . . . . . 222 References . . . . . . . . . . . . . . . . . . . . . . . . 222

Discussion and Conclusions . . . . . . . . . . 229 Intuitive Visualization of the Location of Growth Differences . . . . . . . . . . . . . . 230

10

Facial Growth and Morphology in the Unoperated Cleft Lip and Palate Subject: The Sri Lanka Study Michael Mars

208 209

The Position of the Cleft Maxilla Within the Cranium and the Mandible 210 The Cranial Base . . . . . . . . . . . . . . . . . . . 210 Relationship of the Nasal Cavity to Arch Form . . . . . . . . . . . . . . . . . . . . . . 211

225 227 227 227 229

References . . . . . . . . . . . . . . . . . . . . . . . . 234

208

The Relationship Between the Clefting Process and Contiguous Skeletal Structures . . . 210

Facial Growth in Cleft Palate Children

10.1

Sri Lankan Cleft Lip and Palate Project . 237

10.1.1. 10.1.2 10.1.3

Controls . . . . . . . . . . . . . . . . . . . . . . . . . . 238 Records Collected for Study . . . . . . . . . 238 Radiographs . . . . . . . . . . . . . . . . . . . . . . . 238

10.2

Unoperated Unilateral Cleft Lip and Palate . . . . . . . . . . . . . . . . . . . . . . . . . 241

10.2.1 10.2.2 10.2.3

Dental Study Models . . . . . . . . . . . . . . . The GOSLON Yardstick . . . . . . . . . . . . . Unilateral Cleft Lip and Palate Study Models Analysis by Reflex Microscope Arch Widths . . . . . . . . . . . . . . . . . . . . . . . Tooth Widths . . . . . . . . . . . . . . . . . . . . . . Chord Lengths . . . . . . . . . . . . . . . . . . . . . Crossbites . . . . . . . . . . . . . . . . . . . . . . . . . Overjet . . . . . . . . . . . . . . . . . . . . . . . . . . . Missing Teeth . . . . . . . . . . . . . . . . . . . . . . Crowding . . . . . . . . . . . . . . . . . . . . . . . . . Summary of Reflex Microscope Findings on Study Models: UCLP . . . . .

10.2.3.1 10.2.3.2 10.2.3.3 10.2.3.4 10.2.3.5 10.2.3.6 10.2.3.7 10.2.4

241 245 245 245 245 246 246 246 246 246 247

XX

Contents

10.3

Unoperated Bilateral Cleft Lip and Palate . . . . . . . . . . . . . . . . . . . . . . . . . 247

10.4

Unoperated Isolated Clefts of the Palate . . . . . . . . . . . . . . . . . . . . . . . 249

10.4.1

Isolated Cleft Palate Study Models Analysis by Reflex Microscope . . . . . . . Tooth Sizes . . . . . . . . . . . . . . . . . . . . . . . . Chord Lengths and Perpendicular Distances . . . . . . . . Arch Widths . . . . . . . . . . . . . . . . . . . . . . . Overjets . . . . . . . . . . . . . . . . . . . . . . . . . . Factors Influencing Interpretation of Results from the Sri Lankan Cleft Lip and Palate Project . . . . . . . . . . . . . . . Malnutrition and Growth . . . . . . . . . . . Speech Implications . . . . . . . . . . . . . . . . Racial Variation . . . . . . . . . . . . . . . . . . . . Surgical Implications . . . . . . . . . . . . . . .

10.4.1.1 10.4.1.2 10.4.1.3 10.4.1.4 10.4.2 10.4.2.1 10.4.2.2 10.4.2.3 10.4.2.4

249 249 249 251 251 252 252 254

A Brief Overview of Psychological Issues in Cleft Lip and Palate Kathleen A. Kapp-Simon

11A.1

Social and Emotional Adjustment . . . . 257

11A.2

Cognitive Development and School Achievement . . . . . . . . . . . . 258

11A.3

Summary . . . . . . . . . . . . . . . . . . . . . . . . . 259 References . . . . . . . . . . . . . . . . . . . . . . . . 259

11B

12

249 249

References . . . . . . . . . . . . . . . . . . . . . . . . 254

11A

IV

Lip and Palate Surgery A Short History of Prepalatal Clefts P. Randall, D. LaRossa References . . . . . . . . . . . . . . . . . . . . . . . . 280

13

Core Curriculum for Cleft Lip/Palate and other Craniofacial Anomalies

14

Palatal Wound Healing: The Effects of Scarring on Growth Johannes W. Von den Hoff, Jaap C. Maltha, Anne Marie Kuijpers-Jagtman

14.1

Introduction . . . . . . . . . . . . . . . . . . . . . . . 301

14.2

Wound Healing . . . . . . . . . . . . . . . . . . . . 301

14.2.1 14.2.2 14.2.3

Skin and Oral Mucosa . . . . . . . . . . . . . . 301 Phases in Wound Healing . . . . . . . . . . . 302 Contraction and Scarring . . . . . . . . . . . 303

14.3

Effects of Palatal Repair on Growth . . . 304

14.4

Experimental Research . . . . . . . . . . . . . . 305

14.4.1 14.4.2 14.4.3 14.4.3.1 14.4.3.2 14.4.3.3 14.4.4

Effects of Surgery on Growth . . . . . . . . Modification of Surgical Techniques . . Tissue Engineering . . . . . . . . . . . . . . . . . Biocompatible Membranes . . . . . . . . . . Epithelial Sheets . . . . . . . . . . . . . . . . . . . Composite Substitutes . . . . . . . . . . . . . . Mechanisms of Wound Healing (In Vivo Studies) . . . . . . . . . . . . . . . . . . . Mechanisms of Wound Healing (In Vitro Studies) . . . . . . . . . . . . . . . . . .

305 306 306 307 307 307 308

Craniofacial Psychology: New Directions Joyce M. Tobiasen

14.4.5

11B.1

Stigma, Self Concept, and Social Psychological Adjustment . 264

14.5

11B.2

Self-Protective Properties of Social Stigma . . . . . . . . . . . . . . . . . . . . 264

15

11B.3

Research on Self-Protective Properties of Facial Deformity . . . . . . . . 265

Lip and Palate Surgery Samuel Berkowitz

15.1

The Influence of Surgery on Growth . . . 315

15.2

Surgical Closure of the Cleft Lip and Palate . . . . . . . . . . . . . . . . . . . . . . . . . 316

15.3

Lip Surgery . . . . . . . . . . . . . . . . . . . . . . . . 317 Lip Adhesion . . . . . . . . . . . . . . . . . . . . . . 317

11B.3.1 Attributing Negative Feedback to Prejudice . . . . . . . . . . . . . . . . . . . . . . . 265 11B.3.2 Selective Comparisons to Similar Groups . . . . . . . . . . . . . . . . . . 266 11B.3.3 Selectivity of Values . . . . . . . . . . . . . . . . 266 11B.4

Surgery and Self-Esteem . . . . . . . . . . . . 267

11B.5

Research and Clinical Implications . . . . 268 References . . . . . . . . . . . . . . . . . . . . . . . . 268

309

Application of Experimental Results . . 310 References . . . . . . . . . . . . . . . . . . . . . . . . 310

15.3.1 15.4

Palatal Cleft Surgery: Type, Timing, and Sequence . . . . . . . . . . 319

15.4.1

What to Do and When to Do It: Speech and Palatal Growth Considerations . . . . . . . . . . . . . . . . . . . . 319

Contents

15.4.1.1 False Premise 1/2 Wrong Conclusions 1/2 Therapeutic Folly . . . . 319 15.5

The Effect of Surgery on Maxillary Growth . . . . . . . . . . . . . . . . 324

15.6

Speech Considerations . . . . . . . . . . . . . . 326

15.7

Surgical-Orthodontic Procedures and Sequences . . . . . . . . . . . . . . . . . . . . . 327

15.7.1 15.7.2

Palate Cleft Closure Controversies Revisited . . . . . . . . . . . . . 328 Scarring Inhibits Palatal Growth . . . . . 328

15.8

Dental Occlusion Associated with Early Palatoplasty Using a Vomer Flap . . . . . . . . . . . . . . . . . 341

15.8.1

The Fourth Dimension of Time: Catch-up Growth . . . . . . . . . . . . . . . . . . 342 The Need for Differential Diagnosis . . 342 Timing of Palatal Closure Based on the Ratio of the Palatal Cleft to the Palatal Size . . . . . . . . . . . . . . . . . . 343

15.8.2 15.8.3

15.9

15.10

Good Speech Is Dependent on a Palate of Relatively Normal Size and Shape . . . . . . . . . . . . . . 344 Facial Changes in Successfully Treated Cases . . . . . . . . . . . . . . . . . . . . . . 351

15.10.1 Lateral Cephalometric Results from the Oslo Team . . . . . . . . . . . . . . . . 351 References . . . . . . . . . . . . . . . . . . . . . . . . 351

16

Diseases of the Ear in Children with Cleft Palate and Craniofacial Anomalies Sylvan E. Stool

16.1

The Auditory System . . . . . . . . . . . . . . . . 355

16.1.1

Observations of the Tympanic Membrane . . . . . . . . . 355

16.1.2

Eustachian Tube . . . . . . . . . . . . . . . . . . . . 357

16.1.3

Eustachian Tube Function Test . . . . . . . 359

16.2

The Sequelae of Middle-Ear Effusion in the Cleft Palate Child . . . . . . 361

16.3

Craniofacial Anomalies and Communication . . . . . . . . . . . . . . . . 361 References . . . . . . . . . . . . . . . . . . . . . . . . 362

XXI

17

Timing of Cleft Palate Closure Should Be Based on the Ratio of the Area of the Cleft to That of the Palatal Segments and Not on the Age Alone Samuel Berkowitz

17.1

Method and Material . . . . . . . . . . . . . . . 363 Method Used for Analyses . . . . . . . . . . . 364

17.1.1 17.2

Treatment Protocols at Each of the Centers . . . . . . . . . . . . . . . . . . . . . . 365

17.2.1

Miami Craniofacial Anomalies Foundation, South Florida Cleft Palate Clinic . . . . . . . . . . . . . . . . . . . . . . . 365

17.3

Results – Comparison of Total Surface Area in Unilateral Cases . . . . . . 367

17.3.1

Growth Velocity in the Unilateral Cases . . . . . . . . . . . . . . 17.3.2 Comparison of Unilateral Posterior Cleft Areas . . . . . . . . . . . . . . . . . . . . . . . . 17.3.3 Comparisons of the Ratio of Posterior Cleft Area to Total Surface Area in Unilateral Cases . . . . . . . . . . . . . . . . . 17.3.3.1 Tracking of the Large and Small Segments in Unilateral Cases . . . . . . . . . . . . . . . . . 17.3.4 Comparisons of Surface Area in the Bilateral Cases . . . . . . . . . . . . . . . 17.3.4.1 Growth Velocity in the Bilateral Cases . . . . . . . . . . . . . . . 17.3.5 Comparison of Bilateral Posterior Cleft Areas . . . . . . . . . . . . . . . . . . . . . . . . 17.3.6 Comparisons of the Ratio of Posterior to Total Surface Area in Bilateral Cases . . . . . . . . . . . . . . . . . . . 17.3.7 Conclusions for the Bilateral Series . . . 17.3.8 Clinical Significance of the Results . . . 17.3.9 Discussion . . . . . . . . . . . . . . . . . . . . . . . .

368 370 370 370 372 373 373 373 374 374 375

17.4

Good Speech Is Dependent on a Normal Palate . . . . . . . . . . . . . . . . . 376

17.5

Conclusions . . . . . . . . . . . . . . . . . . . . . . . 377 References . . . . . . . . . . . . . . . . . . . . . . . . 377

XXII

Contents

20

V

Presurgical Orthopedics

18

Neonatal Maxillary Orthopedics Samuel Berkowitz

18.1

The Beginning . . . . . . . . . . . . . . . . . . . . . 381 Stated Benefits of Presurgical Palatal Manipulation . . . 381

18.1.1

A Comparison of the Effects of the Latham–Millard POPLA Procedure with a Conservative Treatment Approach on Dental Occlusion and Facial Aesthetics in CUCLP and CBCLP Samuel Berkowitz, Martha Mejia

Dental Occlusion . . . . . . . . . . . . . . . . . . . 20.1.1 Method and Materials . . . . . . . . . . . . . . 20.1.1.1 POPLA – Presurgical Orthopedics with Lip Adhesion . . . . . . . . . . . . . . . . . . 20.1.1.2 Non-POPLA Conservative Treatment of CBCLP and CUCLP . . . . . . . . . . . . . .

20.1

409 409

18.2

Closing the Alveolar Cleft Space: Primary Bone Grafting . . . . . . . . . . . . . . 382

18.2.1 18.2.2 18.2.3 18.2.4

The Kernahan-Rosenstein Procedure . Critical Review . . . . . . . . . . . . . . . . . . . . Long-term Results . . . . . . . . . . . . . . . . . . A Critique of Primary Bone Grafts . . .

383 383 383 384

20.2

Discussion . . . . . . . . . . . . . . . . . . . . . . . . 414

18.3

The Zurich Concept . . . . . . . . . . . . . . . . . 385

20.3

POPLA CUCLP . . . . . . . . . . . . . . . . . . . . . 418

18.4

The Netherlands Approach . . . . . . . . . . 385

18.4.1 18.4.2 18.4.2.1 18.4.2.2 18.4.3

Unilateral Cleft Lip and Palate (UCLP) Bilateral Cleft Lip and Palate (BCLP) . . The Spread of PSOT Clinics . . . . . . . . . Long-term Utility of PSOT . . . . . . . . . . The Long-term Effect of Primary Bone Grafting . . . . . . . . . . .

410 414

20.4

385 387 390 390

Conservative Non-POPLA CUCLP and CBCLP Cases . . . . . . . . . . . . . . . . . . . 444

20.5

Variations in Palatal Osteogenic Deficiency and Its Influences on Surgical Treatment . . . . . . . . . . . . . . . 448

391

20.6

Correction of Midfacial Deficiencies in Conservatively Treated Non-POPLA Cases . . . . . . . . . . . 448

20.7

Similar Presurgical Orthopedics As It Was Utilized in the Past – It Failed Then As It Does Now . . . . . . . . 448

References . . . . . . . . . . . . . . . . . . . . . . . . 392

19

History of Neonatal Maxillary Orthopedics: Past to Present Anne Marie Kuijpers-Jagtman, Birte Prahl-Andersen

19.1

Introduction . . . . . . . . . . . . . . . . . . . . . . . 395

19.2

Early History of Neonatal Maxillary Orthopedics . . . . . . . . . . . . . . 396

19.3

Claimed Benefits of Neonatal Maxillary Orthopedics . . . . 396

19.4

Specific Types of Infant Orthopedics . . . . . . . . . . . . . . . 397

References . . . . . . . . . . . . . . . . . . . . . . . . 449

19.4.1 19.4.2 19.4.3 19.4.4

Kernahan Rosenstein Procedure . . . . . Latham-Millard Pinned Appliance . . . . The Zurich Approach . . . . . . . . . . . . . . . Nasoalveolar Molding Grayson . . . . . . .

397 398 398 399

19.5

The DUTCHCLEFT Study . . . . . . . . . . . . . 400

19.5.1 19.5.2 19.5.3 19.5.4 19.5.5 19.5.6

Background . . . . . . . . . . . . . . . . . . . . . . . Experimental Design . . . . . . . . . . . . . . . General Effects . . . . . . . . . . . . . . . . . . . . Orthodontic Effects . . . . . . . . . . . . . . . . Effect on Speech . . . . . . . . . . . . . . . . . . . Cost-Effectiveness . . . . . . . . . . . . . . . . . .

19.6

400 400 401 401 402 403

21

Nasoalveolar Molding for Infants Born with Clefts of the Lip, Alveolus and Palate Barry H. Grayson, Deirdre Maull

21.1

Introduction . . . . . . . . . . . . . . . . . . . . . . . 451

21.2

History . . . . . . . . . . . . . . . . . . . . . . . . . . . 451

21.2.1

Objectives . . . . . . . . . . . . . . . . . . . . . . . . . 452

21.3

Procedure . . . . . . . . . . . . . . . . . . . . . . . . . 453

21.4

Complications . . . . . . . . . . . . . . . . . . . . . 456

21.5

Benefits . . . . . . . . . . . . . . . . . . . . . . . . . . . 457 References . . . . . . . . . . . . . . . . . . . . . . . . 458

22

Surgical Treatment of Clefts of the Lip and Palate from Birth to Age Ten S. Anthony Wolfe, Rami Ghurani, Marta Mejia

Conclusions . . . . . . . . . . . . . . . . . . . . . . . 404

22.1

Timing of Treatment . . . . . . . . . . . . . . . . 459

References . . . . . . . . . . . . . . . . . . . . . . . . 404

22.2

Presurgical Treatment . . . . . . . . . . . . . . . 460

22.3

Palatal Closure . . . . . . . . . . . . . . . . . . . . . 461

Contents

22.4

Secondary Repair of Palatal Defects . . . . . . . . . . . . . . . . . 462

22.5

Alveolar Bone Grafting . . . . . . . . . . . . . 462

22.6

Secondary Operations on the Lip and Nose . . . . . . . . . . . . . . . 463

22.7

Case Reports . . . . . . . . . . . . . . . . . . . . . 463 References . . . . . . . . . . . . . . . . . . . . . . . 476

VI 23A 23A.1

XXIII

23B.4.3 23B.4.3.1 23B.4.3.2 23B.4.3.3 23B.4.3.4 23B.4.4 23B.5

Protraction Facial Mask Samuel Berkowitz

23C.1

Protraction of the Maxilla Using Orthopedics . . . . . . . . . . . . . . . . 479

Surgical Maxillary Advancement LeFort I Osteotomy . . . . . . . . . . . . . . . . 503

23C.2

Stability of Maxillary Advancement . . . . . . . . . . . . . . . . . . . . 505

23C.3

Total Maxillary Advancement and Its Possible Effect on Speech . . . . 510

23C.4

Technique . . . . . . . . . . . . . . . . . . . . . . . 510

23C.5

Multiple Maxillary Osteotomies . . . . . 515

Protraction Facial Mask for the Correction of Midfacial Retrusion: The Bergen Rationale Rolf S. Tindlund

23B.2

Midfacial Retrusion in CLP Patients . . . . . . . . . . . . . . . . . . . . 487

23B.2.1 23B.2.2

Anterior Crossbite . . . . . . . . . . . . . . . . 488 Orofacial Function . . . . . . . . . . . . . . . . 488

23B.3

Principles of Orthopedic/ Orthodontic Treatment in CLP Patients . . . . . . . . . . . . . . . . . . . . 488

23B.3.1

Checklist for CLP Orthopedic/ Orthodontic Treatment Objectives . . Presurgical Orthopedics . . . . . . . . . . . Interceptive Orthopedics . . . . . . . . . . . Alignment of Maxillary Incisors . . . . Secondary Alveolar Bone Grafting . . . Conventional Orthodontics in the Permanent Dentition . . . . . . . . Dental Adjustments at Age 16–17 for Girls, 18–19 years for Boys . . . . . . . . . . . . . . .

23B.4

23B.4.1 23B.4.2 23B.4.2.1 23B.4.2.2

Conclusions . . . . . . . . . . . . . . . . . . . . . . 500

LeFort I Osteotomy S.A Wolfe, Samuel Berkowitz

Early Rehabilitation . . . . . . . . . . . . . . . 487

23B.3.1.6

500

23C

23B.1

23B.3.1.1 23B.3.1.2 23B.3.1.3 23B.3.1.4 23B.3.1.5

498 498 499 499 499

References . . . . . . . . . . . . . . . . . . . . . . . 501

Midfacial Changes

References . . . . . . . . . . . . . . . . . . . . . . . 485

23B

Treatment Results of Using a Protraction Facial Mask . . Clinical Results . . . . . . . . . . . . . . . . . . . Limitations . . . . . . . . . . . . . . . . . . . . . . Stability/Relapse . . . . . . . . . . . . . . . . . . Soft-Tissue Profile . . . . . . . . . . . . . . . . Long-Term Prognosis After Interceptive Orthopedics . . . . . .

489 489 489 489 489

23D

Rigid External Distraction: Its Application in Cleft Maxillary Deformities John W. Polley, Alvaro A. Figueroa

23D.1

Materials and Methods . . . . . . . . . . . . 519

23D.2

Cephalometric Evaluation . . . . . . . . . . 521

23D.3

23D.3.1 23D.3.2 23D.3.3

Results . . . . . . . . . . . . . . . . . . . . . . . . . . Angular Changes . . . . . . . . . . . . . . . . . Linear Changes . . . . . . . . . . . . . . . . . . . Dental Changes . . . . . . . . . . . . . . . . . . .

23D.4

Discussion . . . . . . . . . . . . . . . . . . . . . . . 524

522 522 523 523

References . . . . . . . . . . . . . . . . . . . . . . . 531

489

VII

Orthognathic Surgery

495

Outline of CLP Treatment Procedures in Bergen . . . . . . . . . . . . . . 495

Plastic Surgery . . . . . . . . . . . . . . . . . . . Interceptive Orthopedics . . . . . . . . . . . Protraction Facial Mask . . . . . . . . . . . Quad-helix Spring (with Four Bands and Hooks) . . . . . . 23B.4.2.3 Transverse Expansion . . . . . . . . . . . . . 23B.4.2.4 Protraction . . . . . . . . . . . . . . . . . . . . . . 23B.4.2.5 Fixed Retention . . . . . . . . . . . . . . . . . . .

References . . . . . . . . . . . . . . . . . . . . . . . 516

495 495 495 495 497 498 498

24

Management of Maxillary Deformities in Growing Cleft Patients Eric J.W. Liou, Philip K.T. Chen

24.1

Introduction . . . . . . . . . . . . . . . . . . . . . 535

24.2

Orthopedic Management of Hypoplastic Maxilla in Growing Unilateral or Bilateral Cleft Patients . . 535

24.2.1

Effective Maxillary Orthopedic Protraction . . . . . . . . . . . . 535

XXIV

Contents

24.2.1.1 Double-Hinged Rapid Maxillary Expander . . . . . . . . . . . . . . . . 24.2.1.2 Alternate Rapid Maxillary Expansions and Constrictions (Alt-RAMEC) of Maxilla . . . . . . . . . . . . 24.2.1.3 Maxillary Protraction Springs for Effective Maxillary Orthopedic Protraction . . . . . . . . . . . . . . . . . . . . . . . . 24.2.1.4 Treatment Protocol for Effective Maxillary Orthopedic Protraction . . . . 24.2.1.5 Treatment Results and Effects of Effective Maxillary Orthopedic Protraction . . . . . . . . . . . . . 24.3

24.4.1 24.4.1.1 24.4.1.2 24.4.1.3 24.4.1.4

537 538

Remodeling the Craniofacial Skeleton by Distraction Osteogenesis – The Madible Fernando Molina

25.1

Clinical Applications of Distraction Osteogenesis . . . . . . . . . . 555

25.1.1 25.1.2 25.1.3

541

25.1.4 25.1.5

Hemifacial Microsomia . . . . . . . . . . . . . Micrognathias . . . . . . . . . . . . . . . . . . . . . The Temporomandibular Joint Ankylosis . . . . . . . . . . . . . . . . . . . . Cleft Lip and Palate Patients . . . . . . . . . Craniosynostosis . . . . . . . . . . . . . . . . . . .

543

25.2

Discussion . . . . . . . . . . . . . . . . . . . . . . . . 569

538

541 541 541

24.5.3.2 24.5.3.3 24.5.3.4

References . . . . . . . . . . . . . . . . . . . . . . . . 571

544 545

26.1

Introduction . . . . . . . . . . . . . . . . . . . . . . . 573

26.2

Integrated Team Approach . . . . . . . . . . 573

545

26.3

Timing . . . . . . . . . . . . . . . . . . . . . . . . . . . . 573

545

26.4

Residual Deformities . . . . . . . . . . . . . . . . 575

26.5

Historical Perspective and Results . . . . 575

26.6

Controversies . . . . . . . . . . . . . . . . . . . . . . 580

26.7

Conclusions . . . . . . . . . . . . . . . . . . . . . . . 583

545

Protocol for Approximating a Wide Alveolar Cleft . . . . . . . . . . . . . . . Minimize Alveolar Cleft by Effective Maxillary Orthopedic Protraction . . . . Clinical Procedures for Effective Maxillary Orthopedic Protraction of Lateral Segments of Maxilla . . . . . . . Treatment Results . . . . . . . . . . . . . . . . . . Interdental Distraction Osteogenesis for Approximating Alveolar Cleft Wider than a Tooth Width . . . . . . . . . . . Presurgical Orthodontic Preparations . . . . . . . . . . . . . . . . . . . . . . Interdental Distraction Site . . . . . . . . . . Surgical Procedures . . . . . . . . . . . . . . . . Distraction Protocol . . . . . . . . . . . . . . . .

24.5.3.1

563 563 565

Cleft-Orthognathic Surgery Jeffrey C. Posnick, Paul S. Tiwana

24.5.1

24.5.2.2 24.5.3

555 561

26

Managements of a Wide Alveolar Cleft and Fistula . . . . . . . . . . . . . . . . . . . . 547

24.5.2.1

Summary . . . . . . . . . . . . . . . . . . . . . . . . . 553

25

24.5

24.5.2

24.6

References . . . . . . . . . . . . . . . . . . . . . . . . 553

Orthopedic Management of a Laterally Displaced Premaxilla in Bilateral Cleft Patients . . . . . . . . . . . . 544

Premaxillary Orthopedic Medial Repositioning . . . . . . . . . . . . . . . . . . . . . Orthodontic Preparation . . . . . . . . . . . . Device for Premaxillary Orthopedic Medial Repositioning . . . . Treatment Results of Premaxillary Orthopedic Medial Repositioning . . . . Mechanisms of Premaxillary Orthopedic Medial Repositioning . . . .

24.5.3.5 Postdistraction Maintenance and Orthodontic Tooth Movement Through the Regenerate . . . . . . . . . . . . 551 24.5.3.6 Postdistraction Alveolar Bone Grafting or Gingivoperiosteoplasty . . . 551 24.5.3.7 Treatment Results . . . . . . . . . . . . . . . . . . 551

538

Orthopedic Management of a Downward Displaced Premaxilla in Bilateral Cleft Patients . . . . . . . . . . . . 540

24.3.1 Premaxillary Orthopedic Intrusion . . . 24.3.1.1 Orthodontic Preparation . . . . . . . . . . . . 24.3.1.2 Device for Premaxillary Orthopedic Intrusion . . . . . . . . . . . . . . . 24.3.1.3 Treatment Results of Premaxillary Orthopedic Intrusion . . . . . . . . . . . . . . . 24.3.1.4 Mechanisms of Premaxillary Orthopedic Intrusion . . . . . . . . . . . . . . . 24.4

536

References . . . . . . . . . . . . . . . . . . . . . . . . 583

547 27

Prevention of Relapse Following Cleftal Bone Grafting and the Future Use of BMP Cytokines to Regenerate Osseous Clefts Without Grafting Philip J. Boyne, Alan S. Herford, Dale E. Stringer

547 547 547 27.1

Iliac Crest Bone Grafting . . . . . . . . . . . . . 588

548

27.2

548 549 549 550

Appropriate Sequencing of Orthodontic and Surgical Treatment . . . . . . . . . . . . . 589

27.3

Description of the Surgical Procedure for Bone Grafting . . . . . . . . . 592

Contents

27.4

Relapse in Bilateral Cases Following Bone Grafting and Possible Causes of Relapse . . . . . . . 595

27.5

The “Displaced” Premaxilla . . . . . . . . . . 595

27.6

The Use of Different Types of Bone Graft Materials . . . . . . . . . . . . . . 596

27.7

Surgical Use of BMP Cytokines in Producing Appropriate Reconstruction of Cleftal Bone Defects . . . . . 596

27.8

Review of Studies of Cytokines in Bone Inductive Reconstructive Surgery (BMPS) . . . . . . . . . . . . . . . . . . . . 598

27.9

Application of BMP-2 to Maxillary Cleft Defects . . . . . . . . . . . . 598

27.10

Conclusions . . . . . . . . . . . . . . . . . . . . . . . 599

27.11

Summary . . . . . . . . . . . . . . . . . . . . . . . . . 600 References . . . . . . . . . . . . . . . . . . . . . . . . 600

28

28.1

Secondary Bone Grafting of Alveolar Clefts Frank E. Abyholm

XXV

29.3

Preoperative Considerations for Orthognathic Surgeons . . . . . . . . . . 610 References . . . . . . . . . . . . . . . . . . . . . . . . 610

VIII

The Nasopharyngeal Area

30

Diagnostic Procedures and Instruments Used in the Assessment and Treatment of Speech Samuel Berkowitz

30.1

Articulation Tests . . . . . . . . . . . . . . . . . . . 615

30.2

Rating Scales of Speech Intelligibility and Acceptability . . . . . . . . . . . . . . . . . . 615

30.3

Cephalometrics . . . . . . . . . . . . . . . . . . . . 615

30.4

Cine- and Videofluoroscopy . . . . . . . . . 616

30.5

Multiview Videofluoroscopy . . . . . . . . . 616

30.5.1

Technique . . . . . . . . . . . . . . . . . . . . . . . . . 617

30.6

Ultrasound . . . . . . . . . . . . . . . . . . . . . . . . 617

30.7

Video Nasopharyngoscopy . . . . . . . . . . 617

30.7.1

Technique . . . . . . . . . . . . . . . . . . . . . . . . . 618

Surgical Technique . . . . . . . . . . . . . . . . . 601

30.8

The Nasometer . . . . . . . . . . . . . . . . . . . . 618

Technique . . . . . . . . . . . . . . . . . . . . . . . . . 619

28.2

Orthodontic Management . . . . . . . . . . . 602

30.8.1

28.2.1 28.2.2

Preparation for Bone Grafting . . . . . . . 602 Permanent Dentition Management . . . 602

30.9

28.3

Optimal Age for Secondary Bone Grafting . . . . . . . . . 603

Aeromechanical Measurement . . . . . . . 30.9.1 Warren and Dubois Technique . . . . . . . 30.9.1.1 PERCI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 30.9.1.2 TONAR . . . . . . . . . . . . . . . . . . . . . . . . . . .

28.3.1

Secondary Bone Grafting . . . . . . . . . . . . 604

30.10

28.4

The Grafting Tissue of Choice . . . . . . . . 604

28.4.1 28.4.2

Donor Sites . . . . . . . . . . . . . . . . . . . . . . . . 604 Complications . . . . . . . . . . . . . . . . . . . . . 604

28.5

28.5.1 28.5.2 28.5.3

Important Surgical Details . . . . . . . . . . . Flap Design . . . . . . . . . . . . . . . . . . . . . . . Good Exposure . . . . . . . . . . . . . . . . . . . . Cancellous Bone Only . . . . . . . . . . . . . .

28.6

29

619 619 619 619

Summary . . . . . . . . . . . . . . . . . . . . . . . . . 619 References . . . . . . . . . . . . . . . . . . . . . . . . 619

31

Variations in Nasopharyngeal Skeletal Architecture Samuel Berkowitz

31.1

Muscles . . . . . . . . . . . . . . . . . . . . . . . . . . . 621

31.1.1

Pharynx and Velum . . . . . . . . . . . . . . . . 621

Conclusion . . . . . . . . . . . . . . . . . . . . . . . . 605

31.2

Nasopharyngeal Growth . . . . . . . . . . . . 622

References . . . . . . . . . . . . . . . . . . . . . . . . 606

31.3

31.3.1 31.3.2

Functions . . . . . . . . . . . . . . . . . . . . . . . . . 623 Swallowing . . . . . . . . . . . . . . . . . . . . . . . . 623 Speech . . . . . . . . . . . . . . . . . . . . . . . . . . . . 623

31.4

The Role of the Nasal Cavity . . . . . . . . . 625

31.5

The Use of Lateral Roentgencephalometrics in Evaluating Skeletal Pharyngeal Architecture and Velar Elevation . . . . . . . . . . . . . . . . . 627

31.6

Cervical Spine Anomalies . . . . . . . . . . . . 628

31.7

Velar Closure . . . . . . . . . . . . . . . . . . . . . . 632

605 605 605 605

Speech Implication of Orthognathic Intervention Donna Russell Fox

29.1

Role of Speech Language Pathologist . . . . . . . . . . . . . . . . . . . . . . . . 607

29.2

Effects of Altering the Vocal Tract on Speech . . . . . . . . . . . 607

XXVI

Contents

31.8

Improving Velopharyngeal Closure . . . 635

31.8.1 31.8.2 31.8.3

Pharyngeal Flaps . . . . . . . . . . . . . . . . . . . Speech Aid Appliances . . . . . . . . . . . . . . Push-Back Procedures (Velar Lengthening) . . . . . . . . . . . . . . . . Sphincteric Pharyngoplasty (SP) of Orticochea . . . . . . . . . . . . . . . . . . . . . . Posterior Pharyngeal Wall Augmentation . . . . . . . . . . . . . . . . .

31.8.4 31.8.5

635 637

33.5

Effects of Maxillary Expansion on the Nasal Airway . . . . . . . . . . . . . . . . 662

33.6

Effects of the Nasal Airway on Speech . . . . . . . . . . . . . . . . . . . . . . . . . 663

640

References . . . . . . . . . . . . . . . . . . . . . . . . 664

640

34

Surgical Management of Velopharyngeal Dysfunction Richard E. Kirschner, Rachel A. Ruotolo

34.1

Patient Evaluation . . . . . . . . . . . . . . . . . . 667

641

References . . . . . . . . . . . . . . . . . . . . . . . . 641

32

The Velopharyngeal Mechanism Robert J. Shprintzen

32.1

Normal Velopharyngeal Closure . . . . . . 643

34.2

Posterior Pharyngeal Flap . . . . . . . . . . . 669

34.2.1 34.2.2

Surgical Technique . . . . . . . . . . . . . . . . . 670 Outcome . . . . . . . . . . . . . . . . . . . . . . . . . . 671

32.2

Failures of Velopharyngeal Valving . . . 646

34.3

Sphincter Pharyngoplasty . . . . . . . . . . . 671

32.2.1 32.2.1.1 32.2.1.2 32.2.1.3 32.2.1.4

Disorders of Structure . . . . . . . . . . . . . . Overt Clefts . . . . . . . . . . . . . . . . . . . . . . . Submucous Cleft Palate . . . . . . . . . . . . . Occult Submucous Cleft Palate . . . . . . . Other Structural Disorders . . . . . . . . . .

34.3.1 34.3.2 34.3.3

Surgical Technique . . . . . . . . . . . . . . . . . 672 Outcome . . . . . . . . . . . . . . . . . . . . . . . . . . 672 Comparison of Posterior Pharyngeal Flap and Sphincter Pharyngoplasty . . . 673

34.4

32.3

Neurogenic and Myopathic Disorders of Velopharyngeal Function . . . . . . . . . 650

Furlow Double Opposing Z-Palatoplasty . . . . . . . . . . . . . . . . . . . . . 673

34.4.1 34.4.2

Surgical Technique . . . . . . . . . . . . . . . . . 674 Outcome . . . . . . . . . . . . . . . . . . . . . . . . . . 675

34.5

Posterior Pharyngeal Wall Augmentation . . . . . . . . . . . . . . . . . . . . . 675

34.5.1 34.5.2

Surgical Technique . . . . . . . . . . . . . . . . . 676 Outcome . . . . . . . . . . . . . . . . . . . . . . . . . . 676

34.6

Management of Persistent VPD . . . . . . . 677

34.6

Summary . . . . . . . . . . . . . . . . . . . . . . . . . 678

32.4

646 646 648 648 649

Evaluation of Velopharyngeal Insufficiency . . . . . . . . . . . . . . . . . . . . . . . 650

32.5

Indirect Assessments of VPI . . . . . . . . . . 650

32.6

Direct Assessments . . . . . . . . . . . . . . . . . 651

32.6.1 32.6.2

Multiview Videofluoroscopy . . . . . . . . . 651 Nasopharyngoscopy . . . . . . . . . . . . . . . . 653

32.7

Which Direct Visualization Procedure to Use? . . . . . . . . . . . . . . . . . . 654

32.7.1

32.7.3 32.7.4

Multiview Videofluoroscopy Advantages . . . . . . . . . . . . . . . . . . . . . . . . Multiview Videofluoroscopy Disadvantages . . . . . . . . . . . . . . . . . . . . . Nasopharyngoscopy Advantages . . . . . Nasopharyngoscopy Disadvantages . . .

32.8

Reporting of the Results . . . . . . . . . . . . . 654

32.9

The Importance of It All . . . . . . . . . . . . . 654

References . . . . . . . . . . . . . . . . . . . . . . . . 678

35

Velopharyngeal Dysfunction Management Algorithms Jeffrey L. Marsh

35.1

Evaluation of Velopharyngeal Function . . . . . . . . . 682

35.2

Differential Diagnosis of Velopharyngeal Dysfunction . . . . . . 683

References . . . . . . . . . . . . . . . . . . . . . . . . 655

35.3

33

The Nasal Airway in Breathing and Speech Donald W. Warren, Amelia F. Drake

Differential Management of Velopharyngeal Dysfunction . . . . . . 684

35.3.1 35.3.2

33.1

Children . . . . . . . . . . . . . . . . . . . . . . . . . . 658

33.2

Adults . . . . . . . . . . . . . . . . . . . . . . . . . . . . 660

Small Midline Gap . . . . . . . . . . . . . . . . . 685 Sagittal Gap with Active to Moderately Active Lateral Pharyngeal Wall Motion . . . . . . . . . . . . 685 Hypodynamic or Adynamic Velopharyngeal Sphincter . . . . . . . . . . . 685

33.3

Effects of Secondary Procedures on the Nasal Airway . . . . . . . . . . . . . . . . 661

33.4

Speech Aid Prostheses and the Nasal Airway . . . . . . . . . . . . . . . 661

32.7.2

654 654 654 654

35.3.3 35.4

Conclusion . . . . . . . . . . . . . . . . . . . . . . . . 686 References . . . . . . . . . . . . . . . . . . . . . . . . 686

Contents

IX 36

Speech Optimal Age for Palatoplasty to Facilitate Normal Speech Development: What is the Evidence? Sally Peterson-Falzone

36.1

Why Is It So Difficult to Answer this Question? . . . . . . . . . . . . . . . . . . . . . 691

36.2

Why Do Speech-language Pathologists Worry So Much About Early Development? . . . . . . . . . . 692

36.3

XXVII

37.12

Language Development and Learning . . . . . . . . . . . . . . . . . . . . . . 712

37.13

Preschool and School-Aged Investigations . . . . . . . . . . . . . . . . . . . . . 714

37.14

Velo-Cardio-Facial Syndrome . . . . . . . . 715

37.15

Summary . . . . . . . . . . . . . . . . . . . . . . . . . 716 References . . . . . . . . . . . . . . . . . . . . . . . . 717

38

Prosthetic Speech Appliances for Patients with Cleft Palate Mohammed Mazaheri

What Constitutes Scientific Evidence in Clinical Research? . . . . . . . . 692

38.1

Diagnosis and Treatment Planning . . . . 721

38.2

Treatment Planning . . . . . . . . . . . . . . . . 721

36.4

A General Warning: “A” Does Not Cause “B” . . . . . . . . . . . . . . 695

38.3

Requirements of a Speech Appliance . . . . . . . . . . . . . . 721

36.5

A Review of the Literature up to 2000 . . . . . . . . . . . . . . . . . . . . . . . . 695

38.4

Indications for Prostheses in Unoperated Palates . . . . . . . . . . . . . . 722

36.6

The Ongoing Dilemma of “Primary Veloplasty” . . . . . . . . . . . . . . 697

38.4.1

A Wide Cleft with a Deficient Soft Palate . . . . . . . . . . A Wide Cleft of the Hard Palate . . . . . . Neuromuscular Deficiency of the Soft Palate and Pharynx . . . . . . . Delayed Surgery . . . . . . . . . . . . . . . . . . . Expansion Prosthesis to Improve Spatial Relations . . . . . . . . . Combined Prosthesis and Orthodontic Appliance . . . . . . . . . .

36.7 36.8

A Summary of What We Have Learned Since 2000 . . . . . . . . . . . . . . . . . 700 Conclusion . . . . . . . . . . . . . . . . . . . . . . . . 700 References . . . . . . . . . . . . . . . . . . . . . . . . 700

37

38.4.2 38.4.3 38.4.4 38.4.5 38.4.6

723 723 723 724 724

Speech, Language, and Velopharyngeal Dysfunction: Management Throughout the Life of an Individual with Cleft Palate John E. Riski

38.5

Indications for a Prosthesis in Operated Palates . . . . . . . . . . . . . . . . . 726

38.5.1

37.1

Introduction . . . . . . . . . . . . . . . . . . . . . . . 705

38.5.2

Incompetent Palato-pharyngeal Mechanisms . . . . . . . . . . . . . . . . . . . . . . . 726 Surgical Failures . . . . . . . . . . . . . . . . . . . 726

37.2

Challenges . . . . . . . . . . . . . . . . . . . . . . . . 705

38.6

Contraindications for a Prosthesis . . . . 726

37.3

Predicting the Need for Secondary Palate for Management . . . . . . . . . . . . . 706

38.7

Constructing Prosthetic Speech Appliances . . . . . . . . . . . . . . . . . 726

37.4

Predicting Future Speech Proficiency

38.7.1 38.7.2

37.5

Articulation Development and the Age at Palatoplasty . . . . . . . . . . 708

Preliminary Impression . . . . . . . . . . . . . Preparation of the Deciduous Teeth for Retention . . . . . . . . . . . . . . . . . Final Impression . . . . . . . . . . . . . . . . . . . Jaw Relation Records . . . . . . . . . . . . . . .

707

37.6

The Stability of Velopharyngeal Functioning of Time . . . . . . . . . . . . . . . . 708

37.7

Age at Pharyngoplasty . . . . . . . . . . . . . . 709

37.8

The Adult Patient . . . . . . . . . . . . . . . . . . . 710

37.9

Primary Versus Secondary Pharyngoplasty . . . . . . . . . . . . . . . . . . . . 710

37.10

Speech Therapy . . . . . . . . . . . . . . . . . . . . 711

37.11

Role of Parents in Speech Therapy . . . . 712

38.7.3 38.7.4

724

727 727 728 728

38.8

Design and Construction of the Prosthesis . . . . . . . . . . . . . . . . . . . 729

38.8.1 38.8.2 38.8.3 38.8.4

Construction of Velar Section . . . . . . . . Construction of Pharyngeal Section or Speech Bulb . . . . . . . . . . . . . . . . . . . . . Insertion of the Appliance . . . . . . . . . . . Position of Speech Bulb . . . . . . . . . . . . .

38.9

Summary . . . . . . . . . . . . . . . . . . . . . . . . . 732

729 729 732 732

References . . . . . . . . . . . . . . . . . . . . . . . . 733

XXVIII

Contents

39

Palatal Lift Prosthesis for the Treatment of Velopharyngeal Incompetency and Insufficiency Mohammed Mazaheri

40.5

The Need for Three-Dimensional Measuring Techniques . . . . . . . . . . . . . . 754

40.6

Studies Using Three-Dimensional Techniques . . . . . . . . . . . . . . . . . . . . . . . . 755

39.1

Treatment, Methodology, and Results in Patients with Velopharyngeal Inadequacy . . . . . 735

40.6.1

39.1.1 39.1.2 39.1.3 39.1.4

The Referral . . . . . . . . . . . . . . . . . . . . . . . Results of Treatment . . . . . . . . . . . . . . . . Summary . . . . . . . . . . . . . . . . . . . . . . . . . Conclusion . . . . . . . . . . . . . . . . . . . . . . . .

39.2

Palatal Lift Prostheses for the Treatment of Patients Requiring Velar Elevation, Velopharyngeal Stimulation, and Velopharyngeal Obturation . . . . . . 739

39.2.1 39.2.2 39.2.3 39.2.4 39.2.5

Symptoms . . . . . . . . . . . . . . . . . . . . . . . . Etiology . . . . . . . . . . . . . . . . . . . . . . . . . . Speech Characteristics . . . . . . . . . . . . . . Methods of Treatment . . . . . . . . . . . . . . Prerequisites of Lift and Combination Prostheses . . . . . . . . 39.2.6 Objectives in Making Prosthetic Lift and Combination Services . . . . . . . . . . . 39.2.6.1 Results of Using Lift and Combination Prostheses . . . . . . . . 39.3

735 735 739 739

40

762

A New Instrument for 3D Facial and Palatal Cast Study . . . . . . . . . . . . . . 762 References . . . . . . . . . . . . . . . . . . . . . . . . 762

41

Eurocleft – An Experiment in Intercenter Collaboration W.C. Shaw, G. Semb

41.1

The Eurocleft Cohort Study . . . . . . . . . . 765

740

41.1.1 41.1.2 41.1.3 41.1.4 41.1.5

Outcomes at Age 9 . . . . . . . . . . . . . . . . . Follow-up . . . . . . . . . . . . . . . . . . . . . . . . . Survey of Treatment Experience . . . . . . Consistency of Outcomes Over Time . . Lack of Association Between Outcome and the Amount of Treatment . . . . . . . . . . . . . . . . . . . . . . Lack of Association Between Outcome and Satisfaction . . . . . . . . . . . The Benefits of Intercenter Comparison . . . . . . . . . . Audit vs. Research . . . . . . . . . . . . . . . . . . Alternatives to Intercenter Comparisons for Routine Clinical Audit . . . . . . . . . . . Good Practice Archive . . . . . . . . . . . . . . Registries . . . . . . . . . . . . . . . . . . . . . . . . . Benchmarks . . . . . . . . . . . . . . . . . . . . . . . International Agreement on Record Collection and Comparison Methodology . . . . . . .

741 741

Summary . . . . . . . . . . . . . . . . . . . . . . . . . 745

The Future Summary of Treatment Concepts and a New Direction for Future Palatal Growth Studies Samuel Berkowitz

40.1

A New Direction for Cleft Research . . . . 751

40.2

Clinical Research . . . . . . . . . . . . . . . . . . . 751 Initial State . . . . . . . . . . . . . . . . . . . . . . . . 751 Maneuver: Presurgical Orthopedics and Surgical Procedures Used to Close the Palatal Cleft . . . . . . . 752

40.2.1 40.2.2

40.7

755 755 761 762

739 739 740 740

References . . . . . . . . . . . . . . . . . . . . . . . . 746

X

Study 1: Analysis of Longitudinal Growth of CUCLP and CBCLP . . . . . . . 40.6.1.1 Statistical Methods . . . . . . . . . . . . . . . . . 40.6.1.2 Results . . . . . . . . . . . . . . . . . . . . . . . . . . . 40.6.1.3 Discussion . . . . . . . . . . . . . . . . . . . . . . . . 40.6.2 Study 2: Quantitative Study of a Patient with CBCLP Treated with Presurgical Orthopedics . . . . . . . .

40.3

Palatal Embryopathology . . . . . . . . . . . 752

40.4

The Neonatal Palatal Form in Complete Clefts of the Lip and Palate . . . . . . . . . . . . . . . . 753

40.4.1. 40.4.2

The Effect of Muscle Forces . . . . . . . . . . 753 The Influence of Cleft Surgery on Palatal Form and Growth . . . . . . . . . 753

41.1.6 41.1.7 41.1.8 41.1.9 41.1.9.1 41.1.9.2 41.1.9.3 41.1.10

41.2

41.2.1 41.2.2

766 766 766 766 767 768 768 769 769 769 770 770 770

Eurocleft Clinical Network . . . . . . . . . . . 771

Creation of the Network . . . . . . . . . . . . Development of Consensus Recommendations . . . . . 41.2.3 Survey of European Services . . . . . . . . . 41.2.3.1 Models of Care and National Policies . . . . . . . . . . . . . . . 41.2.3.2 Clinical Practices . . . . . . . . . . . . . . . . . . . 41.2.3.3 Consumer Associations in Europe . . . . 41.2.4 The Challenge of Improving Quality of Services . . . . . 41.2.5 Subsequent Progress . . . . . . . . . . . . . . . .

771 771 771 771 772 773 773 773

Contents

EUROCRAN . . . . . . . . . . . . . . . . . . . . . . . . 41.3.1.1 A Group of Randomized Control Trials of Primary Cleft Surgery . . . . . . . 41.3.1.2 A Prospective Registry of Patients Undergoing Distraction Osteogenesis . . . . . . . . . . . . . . . . . . . . . . 41.3.1.3 Two Cohort Studies of Surgical Outcome in UCLP . . . . . . . . 41.3.1.4 Development of a Good Practice Archive . . . . . . . . . . 41.3.1.5 A Gene-Environment Interaction Study . . . . . . . . . . . . . . . . . . 41.3.1.6 A Chromosomal Approach to Identifying Orofacial Clefting Genes . . . . . . . . . . . . . . . . . . . . . 41.3.1.7 Molecular Diagnosis of Monogenic Craniofacial Anomalies . . . . . . . . . . . . . 41.3.2 The Global Context . . . . . . . . . . . . . . . . .

41.3

773

XXIX

42

Social, Ethical, and Health Policy Issues in the Care of Children with Major Craniofacial Conditions Ronald P. Strauss

42.1

Introduction . . . . . . . . . . . . . . . . . . . . . . . 777

42.2

Craniofacial Treatment Decision-Making . . . . . . . . . . . . . . . . . . . 777

42.2.1

The History of Care for Children with Major Craniofacial Conditions . . The Gatekeeper Role for Physicians . . . The Impact of Prenatal Diagnosis . . . . Social Justice and Resource Allocation . . . . . . . . . . . .

774 774 774 774 774 774 775 775

References . . . . . . . . . . . . . . . . . . . . . . . . 775

42.2.2 42.2.3 42.2.4 42.3

778 778 780 780

Justice and the Distribution of Resources . . . . . . . . . . . . . . . . . . . . . . . 782 References . . . . . . . . . . . . . . . . . . . . . . . . 782

Subject Index . . . . . . . . . . . . . . . . . . . . . 785

XXXI

Contributors

Frank E. Abyholm, MD, DDS Dept. of Plastic Surgery Rikshospitalet National Hospital Sognsvannsvn 20, Oslo, 0027, Norway

Samuel Berkowitz, DDS, MS, FICD Diplomate, American Board of Orthodontics Maxillo-Mandibular Reconstruction Cranio Facial Orthopedics The Professional Center – Suite 112 6601 S.W. 80 St. South Miami, FL 33143, USA Philip J. Boyne, DMD, MS, DSc Department of OMFS Loma Linda University School of Dentistry, Loma Linda, CA 92350, USA Alphonse R. Burdi, PhD, SciD University of Michigan Dept. of Cell & Developmental Biology 5734 Medical Science Bldg. 2 Ann Arbor, MI 48109-0616, USA

Amelia F. Drake, MD Craniofacial Outcomes Registry University of North Carolina at Chapel Hill 1700 Airport Road, CB# 5136 Chapel Hill, NC 27599-5136, USA Alvaro A. Figueroa, DDS, MS Rush Craniofacial Center Rush University Medical Center Professional Bldg. I, Suite 425 1725 West Harrison Street, Chicago, IL 60612, USA Rami Ghurani, MD, DDS Craniofacial Fellow Miami Children’s Hospital W-3100 SW 62nd Ave., Miami, 33155, USA Jorge L. Gomez, MD 7300 SW 62nd Place, Suite 201, Miami, FL 33143, USA Barry H. Grayson, DDS New York University Medical Center 550 First Avenue, New York, NY 10016, USA

Philip K.T. Chen, MD Dept. of Orthodontics and Craniofacial Dentistry Chang Gung Memorial Hospital 199 Tung-Hwa North Road, Taipei, 105, Taiwan

Alan S. Herford, DDS, MD Chairman, Division of Oral & Maxillofacial Surgery Dept. of Surgery Loma Linda University Medical Center Loma Linda, CA 92350, USA

Tron A. Darvann, MSc, PhD The 3D-Laboratory for Image Processing and Visualization, School of Dentistry Faculty of Health Sciences University of Copenhagen Copenhagen University Hospital (Rigshospitalet) and the Technical University of Denmark Copenhagen, Denmark

Nuno V. Hermann, DDS, PhD Assistant Professor Dept. of Pediatric Dentistry and Clinical Genetics School of Dentistry, Faculty of Health Sciences University of Copenhagen, Nørre Allé 20 2200 Copenhagen, Denmark Kathleen A. Kapp-Simon, PhD Cleft Lip & Palate Institute 2225 Enterprise Dr., Se. 2506A Westchester, IL 60154-5805, USA

XXXII

Contributors

Richard E. Kirschner, MD, FACS, FAAP Children’s Hospital of Philadelphia 34th & Civic Center Blvd., Wood Bldg. 1st Floor Philadelphia, PA 19104, USA Sven Kreiborg, DDS, PhD School of Dentistry, Faculty of Health Sciences University of Copenhagen, Nørre Allé 20 2200 Copenhagen, Denmark Anne-Marie Kuijpers-Jagtman University of Nijmegen Dept. of Orthodontics and Oral Biology 6500 HB Nijmegen, The Netherlands D. LaRossa 3400 Spruce Street, Philadelphia, PA 19104, USA Eric Jein-Wein Liou, DDS, MS Dept. of Orthodontics and Craniofacial Dentistry Chang Gung Memorial Hospital 199 Tung-Hwa North Road, Taipei, 105, Taiwan Deirdre Maull, DMD Inova Fairfax Hospital for Children Craniofacial Program, Annandale, VA 22003, USA Jaap C. Maltha University of Nijmegen Dept. of Orthodontics P.O. Box 9101, 6500 HB Nijmegen, The Netherlands Michael Mars, BDS, PhD, DSc Hospital For Sick Children Maxillofacial & Dental Dept. Great Ormond Street, London, WC1N 3JH, UK Jeffrey L. Marsh, MD Kids Plastic Surgery 777 S. New Ballas Rd., Ste. 300E St. Louis, MO 63141, USA Mohammad Mazaheri, MDD, DDS, MSc 223 North Lime St., Lancaster, PA 17602, USA Marta Mejia, DDS Research Associate, Division of Plastic Surgery Miami Children’s Hospital W-3100 SW 62nd Ave, Miami, FL 33155, USA Fernando Molina, MD Hospital Angeles del Pedregal Camino a Santa Teresa # 1055 PB 06, Colonia Heroes de Padierna Mexico City, 10700, Mexico

Sally J. Peterson-Falzone, PhD 5460 West Sharpshooter Court Tucson, AZ 85743, USA John W. Polley, MD John W. Curtin Chair Dept. of Plastic & Reconstructive Surgery Co-Director, Rush Craniofacial Center Rush University Medical Center, Professional Bldg. I Ste. 425, 1725 West Harrison Street Chicago, IL 60612, USA Jeffrey C. Posnick, DMD, MD 5530 Wisconsin Ave., Ste. 1250 Chevy Chase, MD 20815, USA Birte Prahl Andersen Academic Centre for Dentistry Amsterdam Louwesweg 1, 1066 EA Amsterdam, Netherlands Samuel Pruzansky, † Peter Randall, MD 609 Foulkeways, Gwynedd, PA 19436, USA Julius B. Richmond, MD (address is unknown) John E. Riski, MS, PhD Children’s Healthcare of Atlanta Ste. 420, 5455 Meridian Mark Rd., NE Atlanta, GA 30342, USA Rachel A. Ruotolo, MD Children’s Hospital of Philadelphia 34th & Civic Center Blvd., Wood Bldg., 1st Floor Philadelphia, PA 19104, USA Donna Russell Fox, MA, PhD Speech Pathologist Cronin and Brauer Facial Reconstruction Ins. Professor Emeritus, University of Houston 8966 Chatsworth, Houston, TX 77024, USA Gunvor Semb The University of Manchester School of Dentistry Higher Cambridge Street, Manchester, M15 6FH, UK William C. Shaw The University of Manchester School of Dentistry Higher Cambridge Street, M15 6FH, Manchester, UK

Contributors

Robert J. Shprintzen, MS, PhD Center for the Diagnosis, Treatment & Study of Velo-Cardio-Facial Syndrome Center for Genetic Communicative Disorders Communication Disorder Unit Professor of Otolaryngology Professor of Pediatrics Upstate Medical University 750 East Adams Street, Jacobsen Hall 714 Syracuse, NY 13210, USA Sylvan E. Stool, MD 1056 East 19th Ave., B-455 Denver, CO 80218, USA Ronald P. Strauss, DMD, PhD The University of North Carolina at Chapel Hill UNC School of Dentistry, CB # 7450 378 Dental Office Building Chapel Hill, NC 27599-7450, USA Dale E. Stringer, DDS Associate Professor, Dept. of Surgery Division of Oral & Maxillofacial Surgery Loma Linda University Medical Center Loma Linda, CA 92350, USA

XXXIII

Rolf S. Tindlund, DDS, PhD Dental School, University of Bergen Dept. of Orthodontics and Facial Orthopedics Arstadveien 17, Bergen,5009, Norway Paul S. Tiwana DDS, MD, MS Dept. of Oral and Maxillofacial Surgery The University of North Carolina at Chapel Hill Chapel Hill, NC 27599, USA Joyce M. Tobiasen, PhD One Ward Pkwy., Ste. 107 Kansas City, MO 64112-2117, USA Johannes W. Von den Hoff University of Nijmegen Dept. of Orthodontics P.O. Box 9101, 6500 HB Nijmegen, The Netherlands Donald W. Warren, DDS, MS, PhD UNC Craniofacial Center University of North Carolina at Chapel Hill PO Box 1356, Southern Pines, NC 28388, USA S. Anthony Wolfe, MD 1444 NW 14th St., Miami, FL 33125, USA

1

Developmental Biology and Morphogenesis of the Face, Lip and Palate Alphonse R. Burdi

Prologue. The “history of man for the nine months preceding his birth would, probably, be far more interesting and contain events of greater moment than all the three score and ten years that follow it.” Samuel Taylor Coleridge, Miscellanies, Aesthetic and Literary. Circa 1800.

The developmental biology of the face, lip, and palate is best understood against a backdrop of biological paradigms and information drawn from the multidisciplinary worlds of classical embryology, developmental biology, and, today, from the exciting world of molecular biology. The advent of many new and exciting clinical interventional strategies for the treatment of birth defects now allows the clinician to treat the most delicate of craniofacial abnormalities which were beyond the realm of treatment even for the skillful clinician due to lack of appropriate technologies. Even the details of craniofacial morphogenesis, however interesting to the clinician, were also seen as being beyond the everyday clinical realm, or esoteric, prior to the advent of the new wave clinical interventional techniques, such as high resolution imaging and information technologies, in the fields of craniofacial and maxillofacial surgery. Today, there is a rekindled need to understand more of the details of craniofacial morphogenesis, especially as that understanding increases our awareness of the etiology, pathogenesis, and clinical features of a variety of craniofacial defects. The goal of this chapter is to provide a highlighted update or working understanding of the “developmental blueprint” followed in human craniofacial morphogenesis, with a special focus on defects of the face, lip, palate, and associated structures. While recent advances in developmental and molecular craniofacial biology contribute heavily to the picture of face and palate morphogenesis, there has been an explosion in our fundamental understanding of the very beginnings of these body regions [43]. Such new information clearly centers on the genesis, behavior, and developmental outcomes of many craniofacial “building block “ cell types throughout their life span. These fundamental phenomena include patterns of early DNA signaling, gene and biochemical organizers, nuclear and cellular differentiation, proliferation, migration, and, importantly, patterns of inter-

active behaviors at intracellular, cell surface, and extracellular matrix levels. Complete or partial interruptions of any one or combination of these phenomena have been implicated in the identification of etiologic and pathogenic causes of mammalian birth defects, including those of the human craniofacial regions. Normal and abnormal morphogenesis of the craniofacial regions, and even that of rest of the body, is dependent upon a myriad of cell types and tissues. One of the most important cell types in understanding normal and abnormal craniofacial morphogenesis is the neural crest cell [2, 36].While the importance of crest cells has been hypothesized for a century or more, not until the advent of neural crest biological markers – first with isotopic labels and later with specific markers as monoclonal antibodies, intracellular dyes, and protein assays – did the neural crest become so widely appreciated in a variety of studies of vertebrate embryogenesis in general, and human craniofacial morphogenesis, in specific. While the majority of recent neural crest studies of have necessarily dealt with chick and mouse embryos, there is ample evidence to show that basic information and associated technologies gained from vertebrate embryos can be directly applied to neural crest cells in mammalian and human embryos. With this in mind, prime consideration should be given to neural crest cells because they contribute heavily to craniofacial morphogenesis. These important “building-block” cells arise from the final stages in formation of the embryonic neural tube. Neural crest cell specificity is the result of an inductive action by nonneural ectoderm adjacent to the developing neural tube (mediated by bone morphogenetic proteins BMP-4 and BMP-7) on the lateral cells of the neural plate as the plate transforms from a plate of ectoderm into the definitive neural tube. The induced neural crest cells express the transcription factor slug which characterizes cells which separate from an em-

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A. R. Burdi

bryonic epithelial layer and subsequently migrate as mesenchymal cells away from the parent site [33]. The identification of the exact molecular mechanisms and cellular events linked to the differentiation, proliferation and, and especially, of the migration of crest cells into the facial and pharyngeal regions is not yet fully known. What is known, however, is that, with the variant OTX2 transcription factor, specific patterns of neural crest proliferation and migration into the pharyngeal arches are controlled by four members of homeodomain proteins called HOX genes (A-D). Another factor thought to be critical in the migration of crest cells is a loss of cell-to-cell adhesiveness which is associated with the loss of cell adhesion molecules (CAMs) characteristic of the neural tube and the migrating neural crest cells [91]. Following the completion of craniofacial crest cell migrations and differentiation into specific structures (such as bones of the facial skeleton) CAMs are re-expressed. Migrating craniofacial crest cells are thought to travel through cell-free intercellular spaces and pathways that have high levels of extracellular matrix molecules [3, 9, 10]. These migrations are determined by factors intrinsic to the crest cells themselves and features of the external environment through which the crest cells migrate. While most available information on neural crest migratory pathways comes from chick studies, data suggest that such information is applicable to mammalian and humans as well. Migrations are facilitated by the presence of such molecular substrates as fibronectin, laminin, and type IV collagen. Attachment to and migration of crest cells is mediated by a family of attachment proteins called integrins. It is important to note that other extracellular matrix molecules in the pathway (e.g., chondroitin sulfate-rich proteoglycans) can impede or block the normal migration of neural crest cells, which may lead to a number of craniofacial malformations. As will be expanded upon later in this chapter, neural crest cells have the remarkable capacity to differentiate into a wide variety of anatomical structures throughout the body. Exactly what controls crest differentiation is still an open question. One hypothesis is that all neural crest cells are equal in their developmental potential, and their ultimate differentiation is entirely predetermined by the environment through which the crest cells migrate and finally reside, i.e., “extrinsic determinants.” A second hypothesis favors “intrinsic determinants” and suggests that premigratory crest cells are intrinsically programmed for different developmental fates. Recent studies indicate that both hypotheses may be operative [1].While neural crest cells have a common site of origin during neural tube formation, not all neural crest cells behave alike. There are two families of crest cells, i.e., cranial and trunk neural crest. Trunk neural crest cells extend

from lower cervical to the most caudal embryonic somites in humans. Trunk neural crest cells appear to have lessened migratory pathways and have fewer developmental outcomes than cranial neural crest cells, including formation of spinal ganglia, sympathetic ganglia, and adrenal medulla chromaffin cells. Interestingly, unlike cranial crest cells, trunk neural crest cells do not have the capacity to differentiate into skeletal tissues. The life history of cranial neural crest cells, while not of any more importance than trunk neural crest cells, appears to be more complex. Cranial neural crest cells are a major component of the embryo’s cephalic end and differentiate into a wide variety of cell and tissue types, including connective, skeletal, dentin, and muscle tissues of the face [64]. Unlike trunk neural crest cells, which show diffuse migratory pathways, cranial neural crest cells follow specific migratory pathways into specific regions of the embryonic head. They arise from the more cephalic neural tube regions and migrate ventrally into the pharyngeal arches adjacent to the upper regions of the embryonic gut tube. Such migrations are extensive and follow very definite migratory paths away from the neural tube and into the facial and pharyngeal regions. In hindbrain regions, neural crest cells arise from eight segmented regions on either side of the hindbrain (rhombencephalon) called rhombomeres (numbered R1-R8) and subsequently migrate into specific pharyngeal arches [12, 14]. Crest cells from R1 and R2 centers migrate into the first pharyngeal arch and play important roles in the formation of Meckel’s cartilage and the malleus and incus ear ossicles developing from it. Crest cells from R4 migrate into the second arch and contribute to the formation of the stapes, styloid process, and lesser horn of the hyoid bone. Crest cells from R6 and R7 migrate into the third arch, and those from R8 migrate into the fourth and sixth pharyngeal arches. The one variant noted above is that the first pharyngeal arch also includes crest cells from midbrain levels which express OTX2 transcription factors. Little evidence exists to show that crest cells from rhombomeric centers R3 and R5 play any significant role in human craniofacial morphogenesis. Crest cells initially express the HOX genes from their originating rhombomeric center, but maintenance of a specific expression is dependent upon interaction of the crest cells with the arch-specific mesoderm in the pharyngeal arches. While there is a specific linkage between given HOX genes and pharyngeal arches, morphologic derivatives arising from these linkages are also dependent upon epithelial-mesenchymal interactions and includes molecular signaling from surface ectoderm covering the arches, specifically, fibroblast growth factors (FGFs) which interact with underlying mes-

Chapter 1

enchymal cells. Crest cells alone do not establish or maintain a specific pattern of morphologic expression. Several regulatory factors have been identified. Sonic hedgehog (Shh) genes and some retinoids have been shown to regulate normal HOX gene expression within the pharyngeal arches associated with a variety of developmental events, including neural plate development and craniocaudal body pattern formation. Defective differentiation, proliferation, and migration of cranial neural crest have been linked with a variety of developmental defects, i.e., the so-called neurocristopathies [24, 28, 29, 34]. Deficiencies and excesses of retinoids, for example, can disrupt proliferation and migration on specific crest cells, resulting in craniofacial defects, e.g., clefts of the lip and palate [54, 62]. With reference to the structural abnormalities in the chromosome 22-deletion DiGeorge syndrome, the fundamental pathogenesis for this clinical syndrome has been linked with defects in cranial neural crest cells of the third and fourth pharyngeal arches and cardiac outflow tract. Other cranial neurocristopathies include the wide range of craniofacial abnormalities in the frontonasal dysplasia family, Treacher Collins syndrome (mandibulofacial dysostosis), the Robin sequence, Waardenburg syndrome (types I and III), and neurofibromatosis (von Recklinghausen’s disease). The “building block “ cells for the head and face are identifiable both premorphologically and morphologically as early as the second intrauterine week. Once mapped out these cells continue with their peak period of cell differentiation, proliferation, and migration through the second intrauterine month.While the classical picture of craniofacial morphogenesis can be framed upon the morphogenesis of primary germ layer cells (i.e., ectoderm, mesoderm, endoderm), there is little doubt whatsoever that the current understandings and excitement about mammalian, including human craniofacial, morphogenesis have been significantly advanced by a plethora of studies of the origins and behavior of embryonic neural crest cells. Morphogenesis of the facial regions depends heavily on the timely differentiation, directed migration, selective proliferation of these crest cells which arise as a product of neural tube formation as the neural tube progressively pinches off from the overlying skin along the body’s dorsal axis. As will be discussed later, cells and tissues within each of the embryonic facial primordia arise from neural crest cells begin their migration (at about 21 postconception days) into the facial regions, as cell clusters called rhombomeres, from their sites of origin along the portions of the neural tube which form the brain. The determinants of crest cell migrations have been variously hypothesized as including intrinsic cell “targeting” factors and

Developmental Biology and Morphogenesis

chemical signaling from cells lining the extracellular cleavage planes through which the crest cells migrate [37, 42]. Crest cells from the developing midbrain regions migrate into upper facial regions, whereas crest cells from hindbrain migrate selectively into the lower facial regions [45–47]. Importantly, once the crest cells migrate into specific facial regions, they differentiate into mesenchymal cells that subsequently give rise to connective tissue and muscle cells of those specific facial regions [41]. While the predominant neural crest-derived mesenchymal cells in the facial regions do co-mingle with mesodermally derived mesenchymal cells, the interactive nature of their co-mingling, or lack thereof, remains uncertain. Consistent with the tenets of the “developmental field concept” [48] in human morphogenesis, both human and experimental studies generally have hypothesized that significant and early interference with normal differentiation, proliferation, and migration embryonic cells, including especially the craniofacial neural crest cells, can lead to isolated and syndromic craniofacial defects, called neurocristopathies, whose occurrence and severity depend on a combination of environmental and genotypic factors specific to a given dysmorphic or phenotypic trait [46, 47, 52]. Having addressed the general developmental features of the craniofacial “building block” neural crest cells, let’s turn our specific attention now to the key events in the shaping of the human face, lip, and palate. When the embryo’s cephalo-caudal axis is established at about 14 postconception days, the facial developmental field is one of the first of the head regions to appear [48]. Centrally-located in this region is a discrete bilaminar tissue plate, called the oropharyngeal membrane, whose structure and location marks the junction between the oral ectoderm and the endodermal digestive tube. This membrane progressively degenerates through the normal process of apoptosis or “programmed cell death” which involves increased phagocytic or lysosomal activity along the inner and outer surfaces of the membrane. Once the apoptosis of the oropharyngeal membrane is completed at 4 weeks, there is direct continuity between the spaces of the early oral cavity and the pharyngeal regions of the digestive tube. Only rarely does the oropharyngeal membrane fail to degenerate. Interestingly, a similar ecto-endodermal membrane lies at the depth of a groove which separates the first pharyngeal from the second pharyngeal arch. As will be discussed later, this membrane will have a very different and important developmental fate (i.e., does not undergo apoptosis) than that of the oropharyngeal membrane related to the fact that it has, unlike the oropharyngeal membrane, a layer of mesenchyme interposed between its ecto- and endodermal layers.

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Clearly as much developmental “shaping” occurs on the laterals aspects of the young embryo’s head as in its the frontal regions. At four weeks, a series of lateral surface elevations, called pharyngeal arches, becomes quite prominent on the lateral side of the head. In fact, the appearance of the embryo’s head region at this time closely resembles the gill slit anatomy seen in a comparably-staged fish embryo; however, unlike in the fishes, the surface gill appearance in human embryos is short-lived, except as noted above, in the case of the development of the ear drum (or tympanum). The pharyngeal arches contribute significantly to the formation of the face, palate, and associated structures. Most congenital malformations of the head and neck have their beginnings during the cellular transformation of the pharyngeal arches into their adult derivatives. For example, branchial cysts and fistulae can occur in those rare instances in which human pharyngeal (or gill) clefts fail to smooth over on the lateral side of the neck. As mentioned earlier, cell masses which contribute to the bulging prominence of the arches are the neural crest cells that have migrated into the pharyngeal arches from specific brain regions, and which eventually differentiate into mesenchymal cells and give rise skeletal and muscular structures specific to a given pharyngeal arch. The first pair of pharyngeal arches are most important in shaping the human face and associated structures and will receive most attention in this chapter. The first pharyngeal arch, often called the mandibular arch, develops as two elevations around the oral opening which was filled in earlier by the oropharyngeal membrane. The larger and lower regions of this arch form much of the mandibular anatomy and the malleus and incus middle ear ossicles, whereas the smaller and upper regions of the first arch on either side of the oral opening give rise to the anatomy of upper lip, teeth, maxilla, zygomatic bone, and squamous portions of the temporal bone. The second pharyngeal arch is located beneath the first arch and is often called the hyoid arch in that it contributes significantly to the formation of the hyoid bone and one of the three middle ear ossicles, called the stapes. These two pharyngeal arches, like each of the other four pharyngeal arches, are separated from each other by a surface pharyngeal l groove which grows inwardly to meet an endodermal-lined outpocketing from the developing pharyngeal region, i.e., the first pharyngeal pouch. As is the case with most pharyngeal grooves and pharyngeal pouches, the contact zone between a pharyngeal l groove and a pharyngeal pouch is a bilaminar plate of ectoderm and endoderm which eventually degenerates, again through the process of “programmed cell death” and increased phagocytic activity. In the case of the first arch, however, this bilaminar plate is separated by invading crest-derived mesenchymal cells

which have been linked with the failure of that specific plate to degenerate and persist normally throughout life as the adult eardrum, or tympanum. The elevated margins around the first pharyngeal groove develop through the selective proliferation of mesenchymal cells beneath the skin into six separate mesenchymal swellings, called auricular hillocks. These auricular hillocks progressively (from both the first and second pharyngeal arches) enlarge, migrate, and consolidate through programmed cell activity and eventually give rise to the external ear, or auricle. Failure of the auricular hillocks to develop normally can result in auricles of abnormal size, shape, and position as seen in a variety of isolated and syndromic craniofacial birth defects, e.g., first and second branchial arch syndrome, hemifacial microsomia, and microtia. The complete absence of the auricle (anotia) is a rare event. To complete this picture of the pharyngeal arches, it is important to note that cells within the arches are supplied by pairs of blood vessels, called aortic arches, that distribute blood from the embryonic heart upward through the tissue of each arch toward the brain and then down to the body [49]. As with the pharyngeal l arches themselves, not all of the aortic arches persist in humans. The aortic arches of the third, fourth, and sixth aortic arches do persist and become greatly modified throughout the embryonic period as they are reconstituted as the common carotid arteries which supply the neck, face, and brain. Especially important in this dynamic development of the craniofacial vasculature is the shifting of the primary arterial supply to the embryonic face prior to, during, and following the formation of the secondary palate. Unlike in the adult, prior to the seventh week, the primary source of blood to both the superficial and deep head tissues is the internal carotid artery and its branches. At about 7–8 weeks when the embryonic palatal shelves are experiencing their most critical stages of elevation and closure, an important shift occurs in the primary blood supply to the face and palatal tissues from the internal carotid to the external carotid arterial system. This transition involves a temporary vascular shunt between internal and external carotid systems provided by the stapedial artery. Failure of either the stapedial artery to form or failure of a complete and timely transition to occur has been hypothesized in identifying the pathogenesis of such conditions as palatal clefting and mandibulofacial dysostosis [51]. Considerably dependent upon the timely set morphogenic events that occur from the time of implantation through the fourth week, the embryonic face continues through its “developmental critical period,” which spans the fifth through seventh intrauterine weeks. It is that time period during which in human craniofacial morphogenesis generally is most suscep-

Chapter 1

tible to either known or suspected birth defect-producing agents, or teratogens [66]. Arising from the first pharyngeal arch are four primordial or “building block” tissue masses that surround the large central depression of the primitive oral cavity. Continued morphogenesis of the facial prominences depends heavily upon the continuing migration, proliferation, and differentiation of the neural crest cells, under the direction of developmental morphogens, to a point in time when the facial prominences, or primordia, are clearly identifiable as the single median frontonasal prominence, paired maxillary prominences on either side of the frontonasal process, and two mandibular prominences beneath the oral opening. The shape and size of these prominences as well as development of the specific skeletal and muscular structures of each pharyngeal arch are critically dependent upon the continued viability and differentiation of the neural crest cells which are especially sensitive to teratogens, e.g., cortisone and retinoic acid [50, 61]. Continuing further with our focus on the developmental “blueprint” for the face, specifically the lip, it is important to note that the outcomes of several distinct brain-skin interactions in placode formation are also essential in early facial morphogenesis. By the beginning of the fifth week, oval patches of skin ectoderm lateral to the median frontonasal prominence interact with brain tissue to set off an ecto-ectodermal interaction resulting in the development of the two thickened nasal placodes located at the ventrolateral regions of the frontonasal prominence. Neural crestderived mesenchymal cells along the margins of the nasal placodes proliferate rapidly to produce horseshoe shaped elevations around the placode, called the medial and lateral nasal prominences, whose continued rapid growth gradually forms the nasal pits, or early nostrils. The forward growth of each lateral nasal process forms the ala of the nose, whereas the medial nasal process contributes to the formation of the nose tip, columella, the philtrum, tuberculum, and frenulum of the upper lip, and the entire primary palate. Through the process of relative growth in this area, the nasal placodes gradually “sink” to the depth of each nasal pit. Failure of the nose to develop completely is associated with failure of both nasal placodes to develop. A second important skin-brain interaction gives rise to localized thickenings of surface ectoderm on each side of the embryo’s head which will form the optic lens, retina, and nerve. Importantly, and as will be discussed later, these eye fields are first located on the lateral aspects of the embryo’s head and progressively migrate to the frontal midline at about the time the facial prominences are consolidating into the complete face [8]. Selective differentiation and proliferation of mesenchymal cells cause the maxillary prominences to

Developmental Biology and Morphogenesis

enlarge and migrate medially toward each other and the lateral and medial nasal prominences [12]. This migration is associated not only with patterns of cellular growth within the maxillary prominences, but also with timely migration of the eye fields from the lateral to the frontal regions of the embryo’s face during the fifth through eighth weeks [8]. Disturbances in normal eye field migration have been suggested as one possible cause of median facial clefting and the conditions of hypo- and hypertelorisms. Continued medial migration of the maxillary prominences on both sides also moves the medial nasal prominences toward the midline and each other. By the end of the sixth week, each maxillary prominence blends, or merges, with the lateral nasal prominence along a line which demarcates the future nasolacrimal groove and duct. This event then establishes the continuity between the side of the nose, or alar region, formed by the lateral nasal prominence with the cheek region formed from the maxillary prominence. A combination of reduced cell numbers and abnormal migration of mesenchymal cells can lead to the abnormal merging or consolidation of the maxillary and lateral nasal prominences. Although seen infrequently, this can lead to facial defects involving oblique facial clefts, persistent nasolacrimal grooves, and failure of the nasolacrimal duct to develop. Between the fourth and eight weeks, the medial nasal prominences merge with each other, small lower portions of the lateral nasal prominences, and with cells in the larger maxillary prominences. This subsurface merging of cells, especially between the medial nasal and maxillary prominences, results in the continuity of upper jaw and lip. As part of this consolidation of the medial nasal and maxillary prominences in upper lip formation, two important morphologic events need to occur. First, there is a deepening and downward growth of the nasal pit toward the oronasal cavity as a blind-ending sac whose floor eventually degenerates through programmedcell death resulting in the formation of the primitive choanae, which allows a continuity between the spaces of the primitive nasal cavity and the common oronasal cavity. An event occurring concomitantly with nasal pit morphogenesis is the formation of the seam between the intermaxillary segment and the maxillary prominence. As these two segments come together in the sixth week, the developmental surface seam of cells between them also elongates as the nasal pit elongates, deepens, and moves downward. This developmental seam, called the nasal fin, essentially forms the floor of the nasal pit and progressively degenerates by increased activity among phagocytic cells on either side of the seam [67]. Once “programmed cell” death of the nasal fin is essentially completed at about the seventh week, mesenchymal

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cells from both the intermaxillary and maxillary prominences intermix, leading to fusion of the upper lip segments into the upper lip and its cupid’s bow. The completion of the embryonic lips generally occurs about 1 week earlier that the formation of the palate. Thus, the lips and palate have different “developmental critical periods” and, as such teratogens might affect either the lips or palate separately, or in combination. The intermixture of mesenchymal cells within the consolidated lip segments give rise to connective tissue components and muscle fibers within the orbicularis oris ring of the upper lip. Complete or incomplete failure of the nasal fin to degenerate have been associated with unilateral and bilateral clefts of the upper lip which variously involve abnormalities of the orbicularis oris muscle in terms of the numbers and distribution of its muscle fibers as part of the orbicularis ring. The incidence of orofacial clefts varies in accordance with the variances reported for differing population groups [22]. Examples of such population-specific differences, called polymorphisms, include cleft lip with or without cleft palate, which is one of the most common craniofacial birth defects in human with a reported incidence as high as 1:1000 in whites and higher in Asian and lower in black populations [13, 38, 56]. Another example of population polymorphisms shows that isolated cleft palate occurs more often in females (67%) than in age-matched males. This gender difference has been associated with a longer period of time for palatal closure in females which essentially increases the time during which female embryos might be affected by palatogenic teratogens [6]. Lateral clefts of the lip may or may not be associated with clefts of the palate. Mesenchymal cell deficiency that results in partial or complete failure of the two medial nasal prominences to consolidate into a philtrum can contribute to the formation of such defects as a bifid nose, or the rare median cleft (“hare lip”) of the upper lip, as characteristically seen in the autosomally recessive Mohr syndrome [23, 25, 30]. As the consolidation of facial processes progresses through the embryonic period, crest-derived mesenchymal cells within the maxillary prominences rapidly proliferate and differentiate into tissues which form mesenchymal cell fields from which the muscles of facial expression develop, and whose myofibers are innervated by the cranial nerve to the second arch, i.e., the facial nerve. Similarly, crest-derived mesenchyme in the maxillary and mandibular portions of the first pharyngeal arch differentiate predominately into the muscles of mastication, which are innervated by the trigeminal nerve of the first pharyngeal arch. Cells within the mandibular prominence give rise to muscle and connective tissue structures of the lower lip, chin, and lower cheek regions. With the reshaping

and consolidation of the five major facial prominences, a recognizable human face is evident by the end of the eighth prenatal week [11, 40, 55, 58, 59]. Morphogenesis of the mammalian palate is an even more complex process which depends heavily upon the balance of genetic, hormonal, and various growth factors. As the face nears the completion of its “developmental critical period,” lateral palatine processes which form the secondary palate grow out from the walls of the still common oronasal cavity. The “developmental critical period” for the palate is from the end of the sixth week through the eighth intrauterine week, or 1 week longer in duration than that of the lip. These palatine shelves first grow medially, then become oriented inferolaterally to lie on either side of the tongue, which is quite precocious in its own development as a muscle-filled epithelial sac that fills much of the oronasal cavity. Nearing 8 weeks, the vertically oriented palatine shelves are progressively repositioned above the tongue mass. This repositioning of the shelves is thought to involve a combination of concurrent events, including a downward contraction of the tongue, an ameboid-like reshaping of the shelves which gradually places them over the tongue surface, an increase in extracellular shelf “forces” (or shelf fluid turgor) which reposition the shelves in a horizontal position, and a downward repositioning of the lower jaw [7, 18, 19]. In reality, normal or abnormal horizontalization of the palatine shelves is related to a combination of these three events. Palatal shelf elevation begins in the posterior regions of the shelves and depresses the tongue downward and forward and this allows the more anterior regions of the shelves to first contact one another near the posterior edge of the primary palate, or in the region of the future incisive canal [4]. Once the shelves are in a horizontal position, the shelves contact each other, and essentially stick together by a combination of interlocking shelf surface microvilli and a proteoglycans surface coating along the medial epithelial edge (MEE) of each shelf [39]. The elimination of the MEE is crucial for normal morphogenesis of the anterior regions of the secondary palate [15, 20, 26, 32]. Once the shelves make contact, there is a degeneration (i.e., apoptosis or programmed cell death) of epithelial cells along the abutting shelf linings, and a directed movement of crest-derived mesenchymal cells from one shelf to the other. This process of epithelial degeneration along with intershelf bridging of mesenchymal cells is called fusion. As is the case for craniofacial morphogenesis in general, several categories of factors (e.g., chromosomes, genes, signaling proteins, transcription factors, specific proteins) have either been identified or hypothesized as important in normal and abnormal palatogenesis [57, 64]. Fusion of the palatal shelves

Chapter 1

has been linked to a variety of growth factors like those in the TGF-Beta-3 growth factor family [32, 53, 63] and protein activities [16, 31]. Complete or regional failures in programmed cell death MEE along the lengths of the palatal shelves can lead to various forms of palatal clefts.While great strides have been made in identifying genetic, cellular, and molecular controls of normal palatal development (mostly in mice and chick embryos), the identification of the exact balance between intrinsic and environmental controls of palatal morphogenesis remains elusive [44, 60]. The embryonic palatine raphe, or future midpalatine suture, marks the line of fusion between the palatine shelves. From the site of first shelf contact and fusion near the future incisive foramen, fusion of the more posterior regions of the shelves takes place over the next two weeks. Fusion also occurs between the shelves and the inferior edge of the nasal septum, except in the more posterior regions where the soft palate and uvula remain free. Once fusion of the shelves of the secondary palate is complete, their mesenchymal cells differentiate into osteogenic cells which form the skeletal elements of the premaxillary, maxillary, and palatine portions of the palate. Formation of the soft palate and uvula takes a slightly different course than that of the regions of the secondary palate which give rise to the hard palate [5]. The soft palate and uvula develop from two separate masses found at the most posterior portions of the secondary palatine shelves. Unlike the fusion mechanism which is in place along much of the length of the palatine shelves, the consolidation of these two separate masses is brought about by a selective proliferation of mesenchymal cells located deep in the valley between the masses. As that proliferation, called merging, continues the valley between the two distal shelf masses is obliterated, which results in a smoothening of the contour of the soft palate and uvula. Failure of the merging process in soft palate and uvula development can result in complete or partial clefts of the soft palate and uvula. Clefts of the palate, with or without clefts of the lip, are relatively common depending on the population group of the individual [23, 65]. Whereas occurrence figures for nonsyndromic cleft lips (with or without cleft palate) are about 1 in 1,000 live births, clefts of the palate (with or without cleft lip) occur in 1 in 2,500 live births, again depending on the population group of the individual, i.e., highest incidence in Asian, intermediate in white, and lowest in black populations [60]. Most clefts of the lip and palate generally are related to an interplay of genetic and environmental factors, i.e., multifactorial inheritance [21]. While animal studies have provided some insight into the molecular and cellular bases of these defects, precise etiologic explanations, especially involving teratogens in the

Developmental Biology and Morphogenesis

etiology of clefts of the human lip and palate, are still wanting. Crucial faulty chromosomes (see, for example, ref. 17) and genes linked to inherited forms of cleft lip and palate have recently been identified. This candidate gene is known as Interferon Regulatory Factor 6 [IRF6] [35]. Other candidate genes have been assigned some importance in palatal morphogenesis, including MSX1, LHX8 6p24 genes (associated with palatal shelf growth and differentiation); TGFA, EGFR and HOXA2 (associated with elevation and depression of tongue);TGFB3 and PVRL1 (associated with associated with sequential fusion stages along the midpalatal seam), and TGFA and EGFR (associated with actual apoptosis, or “programmed cell death” events along the midpalatal seam). Some clefts of the lip with or without cleft palate are seen regularly in a number of single mutant gene syndromes. Other clefts are associated with chromosomal syndromes, especially in trisomy 13. A complete cleft palate represents a maximum degree of clefting and is a birth defect in which the cleft extends from the incisive foramen region through the soft palate and uvula. The incisive foramen region is the demarcation used in distinguishing the two major groups of cleft lip and palate. Anterior cleft types include cleft lip, with or without a cleft of the alveolar region of the maxilla. A complete anterior cleft extends through the lip and alveolar region to the incisive foramen region. The pathogenesis of anterior clefts is related to a deficiency of neural crest-derived mesenchymal cells chiefly within the intermaxillary segment of the lip. The posterior cleft type of birth defect generally include clefts of the secondary palate that extend from the incisive foramen through the soft palate and uvula. The observation that the female secondary palate has a longer “developmental critical period” [6] than the male embryo by approximately 1 week offers some explanation why isolated cleft palate is more prevalent in females (66%) than males (34%). In general, the pathogenesis of posterior palatal clefts is related to abnormalities in a combination of events ranging from deficiencies in mesenchymal cell numbers to perturbations in the shelf extracellular matrices to abnormal elevation and fusion of the shelves, or lack thereof, as associated with a number of hypothesized teratogens, including excess doses of retinoic acids, glucocorticoids, and dioxins.

1.1

Summary

The understanding of the natural history, clinical delineation, and clinical management of birth defects involving the face, lip, and palate has progressed significantly over the last 20 years and continues to do as we move further into the 21st century. Although hu-

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man craniofacial morphogenesis is clearly the culmination of a very complex series of diverse and overlapping developmental events, all of these events can be categorized into four fundamental processes which span mammalian development and are evident in the earliest beginnings of the face and palate – normal and abnormal: (1) cell differentiation – the process through which the myriad of “building block” cell types invoked in facial morphogenesis are generated from the single-celled zygote; (2) morphogenesis – the process or set of processes through which the complex form of the face and its constituent cells, tissues, and organs will emerge in a timely fashion along patternable individual and population lines; (3) growth – the collective results of differentiation and morphogenesis; and (4) dysmorphogenesis and abnormal growth – this is the most exciting of the challenges we face today as we strive to understand how environmental influences interact with and cause changes in the expression of the genetic factors governing the behavior of those cells which will give rise to the entire human body, and especially the face and palatal regions. The treatment of defective genes is very much a part of the current clinical agenda dealing with craniofacial defects. The basic scientist, the dysmorphologist, the clinician, and, importantly, those with natural or acquired craniofacial defects have gained significant advantage from the critical use of available information coming from classical and experimental studies of human morphogenesis. These advantages will continue to increase as laboratory scientists and clinician scholars move rapidly together into the world of molecular and gene biology. These approaches should and will increase our knowledge base on the patterns and underlying causes of normal and abnormal craniofacial morphogenesis – and our patients will be all the better for it. However, most researchers and treatment providers well realize that the practical transfer of new biological information on normal and abnormal development flowing from the laboratory bench to the clinical bedside may be neither easy nor timely to achieve in the effective treatment and management of craniofacial abnormalities. Epilogue. “And the end of all of our exploring will be to arrive where we started and know the place for the first time.” T.S. Eliot, 1918

References The following references have been selected from an ever-growing literature in developmental biology and craniofacial biology in particular. Perusal of any one or several of these references should lead the reader to further readings which bear on the subject of the biology of face, lip and palate development – normal and

abnormal. References noted with an (*) are texts containing illustrations that elucidate the information contained in this chapter.

References 1. Anderson DJ. Cellular and molecular biology of neural crest lineage determination. Trends Genet 1997; 13:276– 280. 2. Birgbauer E, Sechrist J, Bronner-Fraser M, Fraser S. Rhombomeric origin and rostro caudal reassortment of neural crest cells revealed by intravital microscopy. Development 1995; 935–945. 3. Brinkley L, Morris-Wiman J. The role of extracellular matrices in palatal shelf closure. In: Zimmerman EF (ed) Current trends in developmental biology. New York: Academic Press; 1984. 4. Burdi AR, Faist K. Morphogenesis of the palate in normal human embryos with special emphasis on the mechanisms involved. Am J Anatomy 1967; 120:149–160. 5. Burdi AR. Distribution of midpalatine cysts: A re-evaluation of human palatal closure mechanism. J Oral Surg 1968; 26:41–45. 6. Burdi AR, Silvey R. Sexual differences in closure of the human palatal shelves. Cleft Palate J 1969. 6:1–7. 7. Burdi AR, Feingold M, Larsson KS, Leck I, Zimmerman E. Etiology and pathogenesis of congenital cleft lip and cleft palate. An NIDR State of the Art Report. Teratology 1972. 6:255–270. 8. Burdi AR, Lawton TJ, Grosslight J. Prenatal pattern emergence in early human facial development. Cleft Palate J 1988; 25:8–15. 9. Bronner-Fraser M. Experimental analyses of the migration and cell lineage of Avian neural crest cells. Cleft Palate J 1990; 27:110–120. 10. Bronner-Fraser M, Fraser SE. Cell lineage analysis of the avian neural crest. Development 1991; 2:17–22. 11.* Carlson BM. Human embryology & developmental biology. 2nd.ed. St. Louis: Mosby; 1999. 12. Carstens MH. Development of the facial midline. J Craniofacial Surg 2002; 13:129–187. 13. CDC National Center on Birth Defects and Developmental Disabilities. 2002. http://www.cdc.gov/ncbdd. 14. Couly G, LeDourain NM. Head morphogenesis in embryonic avian chimeras: evidence for a segmental pattern in the ectoderm corresponding to neuromeres. Development 1990; 108:543–558. 15. Cuervo R, Valencia C, Chandraratna RAS, Covarrubias L. Programmed cell death is required for palatal shelf fusion and is regulated by retinoic acid. Dev Biol 2002; 245:145– 156. 16. Darling DS, Stearman RP, Qiu M, Feller JP. Expression of Zfhep/EF1 protein in palate, neural progenitors, and differential neurons. Gene Expr Patterns 2003; 3:709–717. 17. Davies AF. Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. J. Med Genetics 1998; 35:857–861. 18. Diewert VM. The role of craniofacial growth in palatal shelf elevation. In: Pratt RM, Christiansen RL (eds). Current research trends in prenatal craniofacial development. New York: Elsevier North-Holland; 1980.

Chapter 1 19. Ferguson MWJ. Palatal development. Development 1988; 103:41–57. 20. Fitchett JE, Hay ED. Medial edge epithelium transforms to mesenchyme after palatal shelves fuse. Dev Biol 1989; 131: 455–474. 21. Fraser FC. The multifactorial threshold concept – uses and abuses. Teratology 1976 14:267–280. 22. Freni SC, Zapisek WF. Biologic basis for a risk assessment model for cleft palate. Cleft Palate J 1991; 28:338–346. 23. Gelehrter TD, Collins FS, Ginsberg D. Principles of medical genetics. 2nd ed. Baltimore: Williams & Wilkins; 1998. 24. Goodman RM, Gorlin RJ. The malformed infant and child. New York: Oxford University Press; 1983. 25. Gorlin RJ, Cohen MM Jr., Levin LS. (eds) Syndromes of the head and neck 4th ed. New York: Oxford University Press; 2002. 26. Griffith CM, Hay ED. Epithelial-mesenchymal transformation during palatal fusion: carboxyfluorescein traces cells at light and electronmicroscopic levels. Development 1992; 116:1087–1099. 27. Hunt P, Wilkinson D, Krumlauf R. Patterning the vertebrate head: murine Hox 2 genes mark distinct subpopulations of premigratory and migratory cranial neural crest. Development 1991; 112:43–50. 28. Johnston MC, Bronsky PT. Craniofacial embryogenesis: abnormal developmental mechanisms. Ch. 5:61–124. In: Mooney MP, Siegel ML, (eds) Understanding craniofacial anomalies. New York: Wiley and Liss; 2002. 29. Jones KL. Smith’s recognizable patterns of human malformation. 4th ed. Philadelphia: W.B. Saunders; 1990. 30. Jones M. The neurocristopathies: reinterpretation based on the mechanism of abnormal morphogenesis. Cleft Palate J 1990; 27:136–149. 31. Kang P, Svoboda KKH. PI-3 kinase activity is required for epithelial-mesenchymal transformation during palatal fusion. Dev Dynamics 2002; 225:316–321. 32. Kaartinen V, Cui XM, Heisterkamp N, Groffen J, Shuler CF. Transforming growth factor-beta 3 regulates transdifferentiation of medial edge epithelium during palatal fusion and associated degradation of the basement membrane. Dev Dynamics 1997; 209:255–260. 33. Keynes R, Cook GMW.Axon guidance molecules. Cell 1995; 83:161–169. 34. Kissel P, Andre JM, Jacquier A. The neurocristopathies New York: Masson; 1981. 35. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, Ferreira de Lima RLL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Mutations in interferon regulatory factor 6 cause vander Woude and popliteal pterygium syndromes. Nat Genet 2002; 32:285–289. 36. Le Dourain N. The neural crest. Cambridge, England: Cambridge University Press; 1982. 37. Lumsden A, Sprawson N, Graham A. Segmental origin and migration of neural crest in the hindbrain region of the chick embryo. Development 1991; 113:1281–1291. 38. March of Dimes Birth Defects Foundation. 2002. http://www.modimes.org/. 39. Martinez-Alvarez C, Tudela C, Perez-Miguelsanz J, O’Kane S, Puerta J, Ferguson MW. Medial edge epithelium cell fate during palatal fusion. Dev Biol 2000; 220:343–357.

Developmental Biology and Morphogenesis 40. Moore K, Persaud TVN. The developing human. 6th ed. Philadelphia: W.B. Saunders; 1998. 41. Morris-Kay G, Tan S-S. Mapping neural crest cell migration pathways in mammalian embryos. Trends Genet 1987; 3:257–261. 42. Morris-Kay G, Tuckett F. Early events in mammalian craniofacial morphogenesis. J Craniofac Genet Dev Biol 1991; 11:181–191. 43. Nieto MA. Control of cell behavior during vertebrate development by Slug, a zinc finger gene. Science 1994; 264:835– 839. 44. Murray J. Gene/environmental causes of cleft lip and/or palate. Clin Genet 2002; 61:248–256. 45. Noden DM. Origins and patterning of craniofacial mesenchymal tissues. J Craniofac Genet Dev Biol 1986; 2:15–31. 46. Noden DM. Cell movements and control of patterned tissue assembly during craniofacial development. J Craniofac Genet Dev Biol 1991; 11:192-213. 47. Noden DM. Vertebrate craniofacial development: the relation between ontogenetic process and morphologic outcome. Brain Behav Evol 1991; 190–225. 48. Opitz JM. The developmental field concept New York: Liss; 1986. 49. Padget D. The development of the cranial arteries in the human embryo. Carnegie Contrib Embryol 1948; 32:205–268. 50. Persaud TVN. Environmental causes of human birth defects Springfield: Charles C Thomas; 1990. 51. Poswillo DE. The pathogenesis of the first and second branchial arch syndrome. Oral Surg, Oral Med, Oral Pathol 1973; 35:302–328. 52. Pratt RM. Environmental factors influencing craniofacial morphogenesis. In: Vig KWL, Burdi AR (eds). Craniofacial morphogenesis and dysmorphogenesis. Craniofacial growth series. Monograph 21. Ann Arbor: University of Michigan Center for Human Growth & Development; 1988. 53. Proetzel G, Pawlowski SA,Wiles MV,Yin M, Boivin GP, Howels PN, Ding J, Ferguson MW, Doetschman T. Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet 1995; 11:409–414. 54. Rowe A, Richman JM, Brickell PM. Retinoic acid treatment alters the distribution of retinoic acid receptors in the embryonic chick face. Development 1991; 111:1007–1016. 55. Sadler TW. Langman’s medical embryology. 9th ed. Baltimore: Lippincott Williams & Wilkins; 2004. 56. Schutte BC, Murray J. The many faces and factors of orofacial clefts. Hum Mol Genet 1999; 8:1853–1859. 57. Slavkin H. Regulatory issues during early craniofacial development. Cleft Palate J 1990; 27:101–109. 58. Sperber GH. Craniofacial embryology. 5th ed. Hamilton, Canada: BC Decker; 2001. 59. Sperber GH. First year of life: prenatal craniofacial development. Cleft Palate J 1990; 29:109–111. 60. Spritz RA. The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr 2001; 13:556–560. 61. Sulik KK, Dehart DB. Retinoic-acid induced limb malformations resulting from apical ectodermal ridge cell death. Teratology 1988; 37:527–537. 62. Sulik KK, Johnston MC, Cook CS, Webster WS. Teratogensand craniofacial malformations. Dev Biol 1988; 103:213– 232 63. Taya Y, O’Kane S, Ferguson MW. Pathogenesis of cleft palate in TGF-beta 3 knockout mice. Development 1999; 126: 3869–3879.

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66. Vig KWL, Burdi AR. Craniofacial morphogenesis and dysmorphogenesis. Craniofacial Growth Series Monograph No.21. Ann Arbor; The University of Michigan Center for Human Growth & Development; 1988. 67. Warbrick JG. The early development of the nasal cavity and upper lip in the human embryo. J Anat 1960; 94:351–362.

2

Prenatal Diagnosis of Oral Clefts Jorge L. Gomez

With improvements in the resolution of ultrasound equipment and technique, craniofacial malformations of the fetus are now identifiable. Oral clefts are the most common facial malformation. The incidence of oral cleft has been estimated to be about 1 per 1,000 live births [1]. The antenatal diagnosis of facial clefts allows for adequate counseling and planning for prenatal care and delivery. The first antenatal ultrasound diagnosis of cleft lip and palate was reported in 1981 [2]. Two cases were reported in the third trimester. Recently, there have been reports of antenatal diagnosis as early as 12 weeks of gestation by transvaginal ultrasound [3]. Figure 2.1 shows a transvaginal ultrasound depicting a cleft lip at 13 weeks of gestation. The technique for early diagnosis of cleft lip and palate has been established [4]. Two planes of the fetal face are obtained. In the frontal plane, disruption of the normal midfacial architecture, with absence of the maxillary ridge normally seen slightly anterior and inferior to the orbits can be demonstrated. Also, broadening of the nasal cavity is noted. In the coronal

plane, a soft tissue mass projecting anteriorly from the midline nasal septum below the nose is seen. Once an oral cleft has been diagnosed by ultrasound, a complete anatomical survey is warranted since there have been approximately 350 syndromes, including chromosomal abnormalities, associated with facial clefting [5]. Nyberg et al. suggested an ultrasound classification for oral clefts which describes five types [6]. Type 1 includes an isolated cleft lip without palate (Fig. 2.2). Type 2 includes unilateral cleft lip and palate. Type 3 is bilateral cleft lip and palate (Fig. 2.3). Type 4 is the median cleft. Type 5 refers to clefts associated with amniotic bands or limb-body-wall complex. The detection rate for prenatal diagnosis of oral clefts is dependent on factors such as the experience of the operator, indications for the studies, i.e., risk factors, and gestational age at the time of the study. In addition, in some prenatal ultrasound laboratories, imaging of the fetal face is done routinely, whereas in other laboratories this is not done. Examination of the fetal face in not currently included in the guidelines

Fig. 2.1. Transvaginal ultrasound of cleft lip

Fig. 2.2. Unilateral cleft lip

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Fig. 2.3. Bilateral cleft lip and palate

for performance of the antepartum obstetrical ultrasonographic evaluation published by the American Institute of Ultrasound in Medicine [7]. Clementi et al. reported the experience in the detection of oral cleft in 20 European countries [1]. In most of the participating countries, evaluation of the fetal face was done routinely. Out of 709,027 births, there were 751 facial clefts (1 per 1000); 553 were cleft lips with or without palate and 198 were isolated cleft palate. The detection rate was 27% for cleft lip/palate and 7% for cleft palate. Fetal deaths occurred in 4% of the cases. On the other hand, Bronshtein et al. reported their experience on early detection by transvaginal ultrasound [8]. The population included 14,988 transvaginal ultrasounds performed during the 12th to the 16th weeks of gestation; 25% of the population was low risk for oral clefts and 75% had risk factors. The incidence of oral clefts was 0.8 per 1,000 (12 cases) and the detection rate was 92% (11/12). Even in experienced hands, ultrasound has its limitations in correctly identifying the involvement of the palate. Cash and Coleman studied the detection rate in low risk population in the United Kingdom, where the fetal face is routinely evaluated [9]. There were 30 cases of oral cleft in a population of 23,577 (1.3 per 1,000). The detection rate for cleft lip and palate was 93% (13/14), 22% (2/9) for isolated cleft palate, and 67% (2/3) for isolated cleft lip. There were no cases of false positive diagnosis. The overall detection rate was 65% and the correct diagnosis was made in 71% of cases. There is also the concern about false positive diagnosis of oral clefts. Hafner et al. performed prenatal ultrasound to detect malformations of the fetal face in 5,407 women [10]. There were 11 facial clefts identified, 8/11 (72%) were detected prenatally. However, there were also 8 false positive cases for a 99.8% specificity. It was interesting in this study that there was a

100% detection rate when the oral cleft was associated with other fetal anomalies, but 50% when it was isolated. Gestational age at the time of the ultrasound has implications in the ability to detect oral clefts. Robinson et al. reported their experience in Brigham and Women’s Hospital [11]. There were 56 confirmed cases of cleft lip in a period of 10 years. The detection rate was 57% before 20 weeks of gestation versus 80% when the ultrasound was done after 20 weeks. Therefore, in patients at increased risk for oral clefts and with a normal early ultrasound should have a repeated study after 20 weeks of gestation. Three-dimensional ultrasound seems to aid in the correct diagnosis of oral clefts. Chen et al. evaluated 21 fetuses with confirmed oral clefts scanned between 20 to 34 weeks of gestation [12]. The accuracy (true positive + true negative) of 3D ultrasound in the diagnosis of oral clefts was 100% versus 29% for 2D ultrasound. In another study by Chmait et al., they found a 100% accuracy of 3D ultrasound versus 91% for 2D ultrasound [13]. However, the same study found a decreased specificity for cleft palate with 3D ultrasound (83%) versus 2D ultrasound (92%). Neonates with cleft lip/palate usually do not have associated malformations; however, the incidence of severe structural anomalies, mainly central nervous system and cardiac, detected by prenatal ultrasound in association with oral clefts is increased; this is due to a high incidence of fetal demise and elective termination of pregnancy. Saltzman et al. found that 10 out of 12 cases (83%) of fetuses with prenatally diagnosed oral clefts had other structural anomalies, and 4 out of the 10 (40%) had an autosomal trisomy [14]. Benacerraf et al. described the outcome of 32 fetuses with prenatally diagnosed oral clefts [15]. Out of 32 fetus diagnosed over a 3 1/2 year period as having cleft lip/palate by ultrasonographic examination, 53% (17/32) had other sonographically detected structural abnormalities; 35% of these (6/17) had aneuploidy (five had trisomy 13 and one trisomy 18). Five pregnancies were electively terminated. Eight died in utero or in the neonatal period. Of the 15 fetuses that had no other abnormalities detected (47%), four electively terminated (27%), one miscarried, and one had vertebral abnormalities and died due to pulmonic stenosis. Nine survived (60%) and underwent successful correction of their cleft lip/palate. Nicolaides et al. found that all the fetuses diagnosed with oral clefts and chromosomal abnormalities had associated structural anomalies [16]. Nyberg et al. reported on the correlation of type of cleft with chromosomal abnormalities and associated structural anomalies [6]. They found a risk of 0% for chromosomal abnormalities and 20% for associated structural malformations in Type 1 (unilateral cleft

Chapter 2

lip); 20% and 47% respectively for Type 2 (unilateral cleft lip and palate); 30% and 55% respectively for Type 3 (bilateral cleft lip and palate); 52% and 100% respectively for Type 4 (median cleft). There was only one fetus with a chromosomal abnormality and isolated oral cleft. Berge et al. found that the risk for chromosomal abnormalities, other structural fetal anomalies, and fetal death was 0%, 0%, and 0% respectively for Type 1; 32%, 48%, and 48% respectively for Type 2; 50%, 72%, and 65% respectively for Type 3; 82%, 100%, and 100% for Type 4. All fetuses with isolated cleft palate had abnormal chromosomes, other malformations, and died in utero or in the neonatal period. Prenatal diagnosis of oral cleft is important for those parents at increased risk for recurrence. Ultrasound laboratories that routinely perform evaluation of the fetal face have to be familiar with the limitations of the diagnosis, i.e., accuracy of the diagnosis and false positives results. Also, these laboratories should be prepared to offer adequate counseling and referral to experts in the treatment and correction of oral clefts. Amniocentesis for isolated oral clefts remains unresolved with incidence of aneuploidy reported to be as low as 0% to as high as 5%. Proponents of routine visualization of the fetal face argue that in the future when fetal surgery becomes safer for both mother and fetus, fetuses with oral cleft may benefit from early in utero intervention.

References 1. Clementi M, Tenconi, R, Bianchi F, Stoll C, EUROSCAN study group. Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. Prenat Diagn 2000; 20:870–875. 2. Christ JE, Meininger MG. Ultrasound diagnosis of cleft lip and cleft palate before birth. Plast Reconstruct Surg 1981; 68:854.

Prenatal Diagnosis of Oral Clefts 3. Bergé SJ, Plath H, Van De Vondel PT, Appel T, Niederhagen B, Von Lindern JJ, Reich RH, Hansmann M. Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol 2001; 18:422–431. 4. Seeds JW, Cephalo RC. Technique of early sonographic diagnosis of bilateral cleft lip and palate. Obstet Gynecol 1983; 62:2S–7S. 5. Cohen MM, Bankier A. Syndrome delineation involving orofacial clefting. Cleft Palate J 1991; 28:119–120. 6. Nyberg DA, Sickler GK, Hegge FN, Kramer DJ, Kropp RJ. Fetal cleft lip with and without cleft palate: US classification and correlation with outcome. Radiology 1995; 195:677– 684. 7. American Institute of Ultrasound in Medicine. Guidelines for performance of the antepartum obstetrical ultrasound examination. J Ultrasound Med 1996; 15:185–187. 8. Bronshtein M, Blumenfeld I, Kohn J, Blumenfeld Z. Detection of cleft lip by early second-trimester transvaginal sonography. Obstet Gynecol 1994; 84(1):73–76. 9. Cash C, Set P, Coleman N. The accuracy of antenatal ultrasound in the detection of facial clefts in a low-risk screening population. Ultrasound Obstet Gynecol 2001; 18(5): 432–436. 10. Hafner E, Sterniste W, Scholler J, Schuchter K, Philipp K. Prenatal diagnosis of facial malformations. Prenatal Diagnosis 1997; 17(1):51–58. 11. Robinson JN, McIlrath TF, Benson CB, Doubilet PM, Westgate MN, Holmes L, Lieberman E, Norwitz E. Prenatal ultrasonography and the diagnosis of fetal cleft lip. J Ultrasound Med 2001; 20:1165–1170. 12. Chen ML, Chang CH, Yu CH, Cheng YC, Chang FM. Prenatal diagnosis of cleft palate by three-dimensional ultrasound. Ultrasound Med Biol 2001; 27(8):1017–1023. 13. Chmait R, Pretorius D, Jones M, Hull A, James G, Nelson T, Moore T. Prenatal evaluation of facial clefts with two-dimensional and adjunctive three-dimensional ultrasonography: a prospective trial. Am J Obstet Gynecol 2002; 187:946–949. 14. Saltzman DH, Benacerraf BR, Frigoletto FD. Diagnosis and management of fetal facial clefts.Am J Obstet Gynecol 1986; 155(2):377–379. 15. Benacerraf BR, Mulliken JB. Fetal cleft lip and palate: sonographic diagnosis and postnatal outcome. Plast Reconstr Surg 1993; 92(6):1045–1051. 16. Nicolaides KH, Salvesen DR, Snijder RJ, Gosden CM. Fetal facial defects: associated malformations and chromosomal abnormalities. Fetal Diagn Ther 1993; 8:1–9.

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3

The Value of Longitudinal Facial and Dental Casts Records in Clinical Research and Treatment Analysis Samuel Berkowitz

After 40 years of treating children with various types of clefts, this author has concluded that the success or failure of a surgical procedure depends on the degree of palatal cleft defect at the time of surgery and the resulting facial growth pattern, as well as the surgical skills and the surgical procedure utilized. This conclusion will not be new to the experienced orthodontist, who in all probability recognizes that the progress recorded in treatment depends, for the most part, on the skeletal and facial growth patterns inherent in the patient, and the interaction of surgery with facial and palatal growth.

3.1

Serial Cephaloradiographs and Casts of the Maxillary and Mandibular Dentition and Occlusion

To properly assess the results of treatment, there is a fundamental need for serial casts, lateral cephalometric films, and photographs in individual case reports. Pruzansky [1, 2] often stated that it is unfortunate that plastic surgeons’ training in the realm of clefts and their variations tends to be totally inadequate, because their first encounters with patients usually occur in the clinic or operating room. Furthermore, there is seldom recourse to anatomical specimens to better appreciate the nature of the cleft deformity. The trainee is dependent on the empirical experience of his preceptor for knowledge of the natural history of the defect and long-term response to therapy. In most cases, other than before and after facial photographs, there are no objective records to determine why the outcome was a success or failure. The collected serial data to be shown in this text will provide the clinician in training with an overview of the variations that can be encountered in each cleft type, the significance of genotype differences that influence growth and response to surgery, and the natural history of each cleft entity.

Over the years, certain cephalometric measurements have become standardized and have been applied to selected population samples to develop statistical means or averages. In the treatment of cleft lip and/or palate, this approach has provided useful data in studying morphologic growth changes in the head, evaluating dentofacial abnormalities, and assessing responses to surgical and orthodontic treatment. The data have been particularly useful in determining the timing and type of procedure selected to treat individual problems. The measurements and analyses utilized are primarily profile-oriented and reveal both anteroposterior and vertical relationships of the various parts of the dentofacial complex. To assess changes during the course of general growth and treatment, head radiographs of the same individual taken at separate times are traced, and the tracings superimposed to ascertain the changes that have occurred. A common method is to register the two tracings at the point sella with the sella-nasion lines superimposed (Fig. 3.2a, b). This method provides a gross overview of changes in the dentofacial complex and in soft tissue, but is useful only in evaluating what has already occurred. In this text we also use the Coben [3] superimposition procedure (Basion Horizontal) because it more accurately reflects actual craniofacial growth direction (Figs. 3.1d, 3.2c). The use of “landmark,” or baseline, images associated with the basicranium to show the composite results of facial growth can provide meaningful information, because it is the enlargement of the face relative to the cranial base that is being evaluated. In the child, further growth changes in the anterior part of the cranial base slow considerably at about 5–6 years of age, whereas facial growth continues actively through adolescence or beyond. Comparing the relative growth between these two regions, rather than simply focusing on a single fixed point, provides clinically useful information when cephalometrically evaluated.

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a

b

c

d

Fig. 3.1 a–d. Various methods used to demonstrate facial changes using lateral cephalometrics. a Facial angles. These are

just a few of the angles which describe changes in the skeletal profile. There are many more angles and linear measurements which can be used to relate the maxilla to the mandible and both jaws to the cranial base. b Facial polygon. This is a graphic method used to describe the boundaries of the skeletal face. (Pogonion constructed, Po’, is the same point as Gnathion.) Facial growth changes can be shown by superimposing each succeeding polygon on the anterior cranial base (SN) and registering on Sella turcica (S). c Projecting facial landmarks to a

constructed Frankfort horizontal line which is arbitrarily drawn 6° off the SN line. This angle can vary with steepness of the anterior cranial base. This graphic method will show the relative contribution of various structures within the maxilla and the mandible to the profile. d Basion horizontal created facial polygon (S.E. Coben, 3). This method of superimposing tracings graphically reflects his overall concept of fixed growth. A plane at the level of the anterior border of foramen magnum (Basion) parallel to Frankfort horizontal where Basion is the point of reference for the analyses of craniofacial growth

Chapter 3

The Value of Longitudinal Facial

a

c Fig. 3.2. a Case CP #127 (CPCLP). Superimposed facial polygons from 1 month, 18 days of age to 7 years, 8 months and 12 days of age. A result of the mandible’s downward growth increments exceeding its horizontal growth increments, this is an example of “poor” facial growth in that the profile fails to flatten as the mandible remains retrognathic. Note that in this and the following illustration the forward projection of the premaxilla does not increase after 1 year, 2 months and 22 days. b Case CP #127. Projecting facial landmarks to a constructed Frankfort horizontal 6° off the SN line.Although each of the skeletal struc-

b

tures except for the mandible has increased in size, the relative position of midfacial structures to the anterior cranial base has remained relatively stable. c Case CP #127. Basion Horizontal coordinate computer craniofacial serial tracings at ages 8, 13, and 18 years. Tracings are registered at Basion and oriented in Frankfort horizontal. Serial tracings maintain a constant S-N/FH relationship. S-N and FH planes are parallel. Tracings depict Coben’s growth philosophy, which states that craniofacial growth is reflected away from the foramen magnum (Basion) and the vertebral column (Reprinted from [3])

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3.2

The Beginning of Longitudinal Cleft Palate Research Studies

Two major research problems were common in cleft palate surgical studies prior to the 1950s. Pruzansky [1, 2] commented on the surgeon’s tendency to group all types of clefts together in research and clinical treatment. He also stated that surgeons were limited in their study of pathologic anatomy of clefts due to the unavailability of serial dental casts, cephaloradiographs, and photographic records. The need for clinical records was apparent to many researchers, and within a decade, many retrospective clinical data sets were developed. These data sets spawned many investigators to determine the longterm influences of surgical and neonatal maxillary orthopedic procedures on palatal and facial growth and development. As a result of these early studies, useful diagnostic and prognostic information was obtained that provided a rationale for the management of individual cleft cases. These clinical records offered an accurate means for measuring and recording individual variation and for plotting the progress of each case in terms of growth and response to various treatments. As a result of these findings, the quality of care improved, resulting in more aesthetic and functional outcomes. Proper documentation, using objective records and individual treatment outcomes, has extended to many more modifications where it is possible to perform multicenter retrospective studies.

3.3

Research Methods [4, 5]

3.3.1

Retrospective Studies

In a retrospective study, the nature of the study group must be delineated precisely. Definite criteria should be established so that there is no ambiguity about types of cases and stages of growth development to be included in, or excluded from, the study. The choice of the case and control groups should be guided by concerns of validity. The advantages of retrospective studies are that they can be conducted relatively rapidly because the records of patients whose treatment is already complete can be used. The investigator is protected against the circumstance of “subject dropout” during the course of treatment, and they are relatively economical.

cally satisfactory plans for random assignment to treatment can be developed, prospective trials afford an opportunity to control selection bias and to define and control the records acquisition process. The main disadvantages of prospective trials are that they are expensive and a great deal of time must inevitably elapse between project initiation and the point at which data on most of the main outcome variables become available for analysis. Multicenter comparisons of surgical-orthodontic treatment outcomes are an efficient way of testing the effectiveness of various treatment philosophies and surgical techniques. Differences among surgeons, variances in performance by the same surgeon over the years, and differences in techniques are difficult to identify and compare in isolation. However, in multicenter clinical studies, differences in clinical procedures among operators can, within defined limits, be compared and evaluated successfully without arousing criticism.

3.3.3

Clinical Trials

A clinical trial may be defined as a carefully designed, prospective study that attempts to answer a precisely defined set of questions with respect to the effects of a particular treatment. A clinical trial is a major undertaking which requires considerable money, personnel, facilities, time, and effort. The simplest design for a clinical trial involves randomization between two different surgical treatment regimens to answer one specific question, for example, which of two surgical procedures is the most beneficial. To add a larger number of surgical procedures makes the trials more difficult to manage. There are two reasons for not using a randomized clinical trial (RCT) method for surgical evaluation of cleft closure procedures whether done as a multicenter or single center trial. The first is the need for the surgeon to disregard the unique nature of the individual cleft defect and perform a standard surgical treatment being tested, the presumption being that clefts of all sizes and shapes will react the same way to the same surgical procedure. The second reason concerns the ethical questions involving the sequencing of surgical procedures and the use of the surgeon’s skills.

3.3.3.1 Randomization of Surgical Procedures 3.3.2

Prospective Studies

The advantages and disadvantages of prospective studies are in essence the inverse of those of retrospective studies. Provided that ethically and logisti-

In proposed multicenter RCT, it is expected that each surgeon will randomly utilize various surgical procedures sequentially for each type of cleft to determine the relative differences in outcome between procedures.

Chapter 3

With the present restraints on certain types of human research, Human Subject Research Review Committees in most settings would be reluctant to permit the use of various elective surgical procedures in a research setting if there is a possibility that a surgical procedure might lead to facial disfigurement. Most surgeons would reject participating in a study employing a particular procedure they already have used and found to be inadequate. Many surgeons see the choice and timing of cleft surgical procedures as varying with the geometric characteristics of the palatal defect; therefore, the concept of randomization cannot be considered as an alternative to what they are already doing. The factor of surgical skill in a randomized trial must be considered as a variable in determining the effectiveness of a procedure. Can all participating surgeons be equally skilled in all procedures?

3.3.3.2 The Ethics of Surgical Retrospective Clinical Trials (RCT) It is impossible to disassociate scientific from ethical considerations when dealing with cleft palate research [6–9]. Different research protocols and evaluation methods carry different ethical problems, the more so when life or death issues are not being considered.

3.3.3.3 Informed Consent When a patient is deemed appropriate for a particular clinical trial, a first step is often to obtain informed consent. This is a legal requirement in the USA, but not in all countries. In some European countries each participating hospital decides on whether and how to handle informed consent. Informed consent is a social construct based on ethical guidelines and supported by legal precedents. In order for consent to be legally valid, it must be obtained voluntarily from a mentally competent person of legal age. The greater the seriousness of the potential injury, even if the risk is minimal, the greater the obligation to inform the patient (or parent). The greater the chance of a risk occurring, even if the injury would be minimal, the greater the obligation to inform the patient (parent). The more elective the proposed treatment, the more serious injury will be perceived. Sheldon Baumrind [10], summarizing the role of clinical research in orthodontics which is also applicable to cleft palate research, states: Cogent arguments can be made concerning the ethics of conducting structured clinical experiments in the kinds of long-term therapeutic situations which

The Value of Longitudinal Facial

interest orthodontists. One telling argument is that since therapists have an absolute and transcendent obligation as professionals to deliver for each patient the treatment which they believe best for that patient, no subject can ethically be randomized to one of two possible treatments unless there is true uncertainty as to which of the two treatments is in the patient’s best interest. For the same reason any experimental design that asks a clinician to treat a patient against the clinician’s own professional bias is inappropriate at best. And even if ethical reservations could be overcome, it would clearly be of only minimal scientific value to accumulate data on how patients fare under treatments not considered optimal at the time they are delivered. Baumrind [10] concludes: Except in special and very limited circumstances, clinical studies in orthodontics cannot and should not be expected to reveal categorically which of two or more treatments is better in a global sense. They can and should be expected to supply valid and reliable information about the mean effects of different treatments. But more important, they should supply information about the usual individual variability of human growth, development, and response to therapeutic intervention. Retrospective studies have permitted clinical investigators to evaluate the palatal and facial growth and development responses within a particular cleft type according to the type and timing of the surgical procedures employed. Such studies have shown that the degree of palatal scarring is directly related to the areas of denuded bone resulting from the displacement of the palates mucoperiosteum during cleft closure. Roentgencephalometry has aided in the elucidation of the nature of the craniofacial malformation associated with facial clefts as it affects the mandible, maxilla, orbits, nasopharyngeal area, and the base of the skull and cervical vertebrae. Moreover, current studies on the variable growth and involution of tonsils and adenoids have raised a number of questions of interest to immunologists.

3.4

The Need for Geometric and Quantitative Analysis of Cleft Palate Casts

Treatment planning in cleft lip and palate habilitation is contingent upon understanding the natural history of the palatal cleft defect and the face in which it exists. Longitudinal dental cast studies ultimately helped explain many cause and effect relationships which existed between palatal surgery and subsequent facial development. However, there still remains an important need for our understanding of palatal

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development, which will further refine and improve rehabilitative procedures. The purpose is to consider previously posed questions in light of newer biostereometric techniques. Specially, the following questions have been asked: 1. Are the palatal shelves intrinsically deficient, adequate, or excessive in mass? 2. To what extent does the geometric relationship of the palatal shelves in one cleft compare with that of another in the same type of cleft? With other types of clefts? With normal palates? 3. To what extent are the palatal shelves displaced in space? 4. How are these parameters altered as a consequence of growth and surgical reconstruction? The advent of advanced biostereometric technique, 3D digital cameras with computer made it possible to analyze the size and shape of the palate in greater detail through intensive geometric survey. The data collected by these systems can be reduced to a mathematical format and subjected to analysis by high speed computers. In accordance with these objectives, we undertook a series of phased studies utilizing stereophotogrammetric electromechanical 3D digital analysis of serial casts of infants with cleft lip and palate with the following specific aims: 1. Test the reliability of the method for selecting the proper anatomical landmarks when extrapolating data from the stereophotographs. 2. Compare and contrast 2- and 3D surface area measurements with other descriptive measurements to determine if there are significant differences in their interpretive values. 3. Perform 3D analysis of serial casts in order to describe the changing geometry of the palatal vault in mathematical terms.

4. Determine whether the descriptive analysis revealed additional information relative to the geometric changes that follow in the course of time. 5. Determine by differential analysis if a constant geometrical relationship might exist between the size and shape of the lesser to greater palatal segment in a complete unilateral cleft lip and palate. 6. The best time to determine palatal surgery based on the size of the cleft relative to the size of the body palate.

References 1. Pruzansky S. Description, classification, and analysis of unoperated clefts of the lip and palate. Am J Orthod 1953; 39:590. 2. Pruzansky S. Factors determining arch form in clefts of the lip and palate. Am J Ortho 1955; 41:827. 3. Coben SE. Basion horizontal – an integrated concept of craniofacial growth and cephalometric analyses. Jenkintown, Pa: Computer Cephalometrics Associated; 1986. 4. Atkins H. Conduct of a controlled clinical trial. Br Med J 1966; 377. 5. Byse ME, Stagust MJ, Sylvester RJ, (eds.) Cancer clinical trials – methods and practice. London, England: Oxford University Press; 1983. 6. Gifford F. The conflict between randomized clinical trials and the therapeutic obligation. J Med and Phil 1986; 11:347–366. 7. Hellman S, Hellman DS. Of mice but not men: problems of the randomized clinical trial. New Engl J Med 1991; 324: 1585–1589. 8. Israel L. Practical and conceptual limitations of best conceived randomized trials. Biomedicine 1978; 28 (special issue):36–39. 9. Kukafka AL. Informed consent in law and medicine: autonomy vs. paternalism. J Law Ethics Dent 1989; 2:132–142. 10. Baumrind S. The role of clinical research in orthodontics. Angle Orthod 1993; 63:235–240.

4

4.1

Facial and Palatal Growth Samuel Berkowitz

Maxillary and Mandibular Growth Concepts

It is not the author’s intent to write a definitive treatise on facial growth and its control processes because there are better sources for such information. However, because the history of cleft palate treatment has been influenced by what clinicians think is the correct facial growth process, it behooves the author to support or refute the various facial-palatal growth concepts based on his own clinical findings.

4.1.1

Newborn Palate with a Cleft of the Lip or Palate

Is bone missing, adequate, or in excess? What is the geometric palatal relation of the palatal segments at birth? With complete clefts of the lip and palate, are the palatal segments collapsed or expanded? Can the palatal segments be stimulated to develop to a larger size by neonatal orthopedic appliances? A number of studies have attempted to determine whether the cleft palate was deficient or adequate in osteogenic tissue; unfortunately, the investigators were limited by paucity of data, lack of homogeneity in their samples, and the hazards of estimating growth from cross-sectional data.

4.1.2

Genetic Control Theory: Craniofacial Growth is Entirely Predetermined

Enlow [1] writes that, in the past, it was thought that all bones having cartilage growth plates were regulated entirely and directly by the intrinsic genetic programming within the cartilage cells. Intramembranous bone (maxillary) growth, however, was believed to have a different source of control. This type of

osteogenic process is particularly sensitive to biomechanical stresses and strains, and it responds to tensions and pressure by either bone deposition or resorption. Tension, as traditionally believed, specifically induces bone formation. According to the traditional wisdom, when tension is placed on a bone, the bone grows locally in response. Pressure, on the other hand, if it exceeds a relatively sensitive threshold limit, specifically triggers resorption. According to this theory when muscle and overall body growth are complete, the bone attains biomechanical equilibrium, that is, the forces of the muscles are then in balance with the physical properties of the bone. This turns off osteoblastic activity, and skeletal growth ceases. Unfortunately for traditional schools of thought, growth control in the human body is more complex than this. Moreover, it is now known that there is not a direct, one-to-one correlation between tension-deposition and pressure-resorption.

4.1.3

Functional Matrix Theory [2, 3] (Figs. 4.1, 4.2)

Enlow [1] goes on to explain that, with the development of the Functional Matrix Principle, a number of important hypotheses began to receive attention. One of these is that the “bone” does not regulate its own growth. The genetic and epigenetic determinants of skeletal developments are in the functional tissue matrix, that is, muscle, nerve, glands, teeth, neurocranial fossa, and nasal, orbital, oral, and pharyngeal cavities. This is primary while the growth of the skeletal unit is secondary. However, although the Functional Matrix Principle describes what happens during growth, it does not account for how it happens. Experiments have shown that mechanical forces are not the principal factor controlling bone growth.

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Fig. 4.1. The process of new bone deposition does not cause displacement by pushing against the articular contact surface of another bone. Rather, the bone is carried away by the expansive force of all the growing soft tissues surrounding it. As this takes place, new bone is added immediately onto the contact surface, and the two separate bones thereby remain in constant articular junction. The nasomaxillary complex, for example, is in contact with floor of the cranium (top). The whole maxillary region, in toto, is displaced downward and forward away from the cranium by the expansive growth of the soft tissues in the midfacial region (center). This then triggers new bone growth at the various sutural contact surfaces between the nasomaxillary composite and the cranial floor (bottom). Displacement thus proceeds downward and forward as growth by bone deposition simultaneously takes place in an opposite upward and backward direction (i.e., toward its contact with the cranial floor). (From [1])

Fig. 4.2. Similarly, the whole mandible is displaced “away” from its articulation in each glenoid fossa by the growth enlargement of the composite of soft tissues in the growing face. As this occurs, the condyle and ramus grow upward and backward into the “space” created by the displacement process. Note that the ramus “remodels” as it relocates posterosuperiorly. It also becomes longer and wider to accommodate (1) the increasing mass of masticatory muscles inserted onto it, (2) the enlarged breadth of the pharyngeal space, and (3) the vertical lengthening of the nasomaxillary part of the growing face. (Reprinted with permission from [1])

Chapter 4

Most researchers agree that a notable advance was made with the development of the Functional Matrix Principle introduced by Moss [2, 3]. It deals with what determines bone and cartilage growth in general. The concept states, in brief, that any given bone grows in response to functional relationships established by the sum of all the soft tissues operating in association with that bone. This means that the bone itself does not regulate the rate and direction of its own growth; the functional soft tissue matrix is the actual governing determinant of the skeletal growth process. The course and extent of bone growth are secondarily dependent on the growth of pace-making soft tissues. Of course, the bone and any cartilage present are also involved in the operation of the functional matrix, because they give essential feedback information to the soft tissues. This causes the soft tissues to inhibit or accelerate the rate and amount of subsequent bone growth, depending on the status of the functional and mechanical equilibrium between the bone and its soft tissue matrix. The genetic determinants of the growth process reside wholly in the soft tissues and not in the hard part of the bone itself. The Functional Matrix Concept is fundamental to an understanding of the overall process of bone growth control. This concept has had a great impact in the field of facial biology. The concept also comes into play as a source for the mechanical force that carries out the process of displacement.According to this now widely accepted explanation, the facial bones grow in a subordinate relationship with all the surrounding soft tissues. As the tissues continue to grow, the bones are passively (i.e., not of their own doing) carried along (displaced) with the soft tissues attached to the bones by Sharpey’s fibers. Thus, for the nasomaxillary complex, the expansion of the facial muscle, the subcutaneous and submucosal connective tissues, the oral and nasal epithelia lining the spaces, the vessels, and the nerves, all combine to move the facial bones passively along with them as they grow. This continuously places each bone and all of its parts in correct anatomic positions to carry out its functions. Indeed, the functional factors are the very agents that cause the bone to develop into its definite shape and size and to occupy the location it does. Growth control is determined by genetic influences and biomechanical forces, but the nature of the balance between them is still, at best, uncertain. No single agent is directly responsible for the master control of growth; the control process encompasses many factors. It involves a chain of regulatory links. Moreover, not all of the individual links are involved in all types of growth changes. Enlow [1] identifies the maxillary tuberosity as being a major site of maxillary growth. It does not, however, provide for the growth of the whole maxilla,

Familial Exudative Vitreoretinopathy

but rather is responsible for the lengthening of the maxillary arches. The whole maxilla is displaced in an anterior direction as it grows and lengthens posteriorly. However, the nature of the force that produces this forward movement is a subject of great controversy. The idea that additions of new bone on the posterior surface of the elongating maxillary tuberosity “push” the maxilla against the adjacent pterygoid plates has been abandoned. Bones do not by themselves have the physiological capacity to push away bones.Another theory held that bone growth at the various maxillary sutures produces a pushing apart of the bones, with a resulting thrust of the whole maxilla downward and forward. This theory has also been rejected because bone tissue is not capable of growth in a field that requires the amount of compression needed to produce a pushing type of displacement. The sutural connective tissue is not adapted to a pressure-related growth process. It is believed that the stimulus for sutural bone growth is the tension produced by the displacement of the bone. Thus, the deposition of new bone is a response to displacement rather than the force that causes it. Although the “sutural push theory” is not tenable, Enlow reports that some students of the facial growth control processes are looking anew at growth mechanizing sutures, but not in the old conceptual way.

4.1.4

Cartilage-Directed Growth: Nasal Septum Theory [4–12]

Cartilages are the leading factor. Synchondrosis, nasal septum, and mandibular condyles are actual growth centers. Sutural growth is compensatory. This theory developed from criticisms of the “sutural theory.” Scott [4, 5] believes that cartilage is specifically adapted to certain pressure-related growth sites, because it is a special tissue uniquely structured to provide the capacity for growth as a result of compression. The basis for this theory is that the pressure-accommodating expansion of the cartilage in the nasal septum is the source of the physical force that displaces the maxilla anteriorly and inferiorly. This, accordingly to Scott’s hypothesis, sets up fields of tension in all the maxillary sutures. The bones then, while they enlarge at their sutures in response to the tension created by the displacement process, move in relation to each other. The nasal septum hypothesis was soon adopted by many investigators in cleft palate centers around the world and became more or less the standard explanation, replacing the “sutural theory.” Clinicians involved in cleft palate treatment, such as McNeil [13–15] and Burston [16–19] and their followers [20–34] accepted Scott’s thesis that cartilage and

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periosteum carry an intrinsic genetic message that guides their growth. They believed that the cartilaginous centers, such as the chondrocranium, the associated synchondroses, and the nasal septum, should be viewed as the true centers of skull and facial growth. Scott [4, 5] further suggests that the nasal septum plays more than a secondary role in the downward and forward vector of facial growth. McNeil [13, 14], following Scott’s thesis, describing the embryopathogenesis of complete clefts of the lip and palate and their treatment at the neonatal period, wrote that the palatal processes, being detached from the growing nasal septum, do not receive their growth impetus and, therefore, are not only retruded within the cranium but are also deficient in osteogenic tissue. He goes still further and believes that the deficient palatal processes can be stimulated to increased size through the use of functional orthopedics.

4.1.4.1 Stimulation of Bone Growth – Is it Possible? As McNeil saw it, pressure forces created by “functional” orthopedic appliances, which are within the limits of tolerance, will act to stimulate bone growth in an anterior direction. This force needs to be applied to particular regions and in particular directions so that it can intensify normal forces. The resulting narrowing of the cleft is due to growth of the underlying bone brought on by such stimulating appliances. Additional growth leads to a reduction in the soft palate cleft as well, thereby increasing the chance of having a long, flexible, well-functioning soft palate after surgical closure. McNeil [14] goes on to suggest that an obturator alone is unsatisfactory because it will reduce “valuable” tongue space and lead to harmful speech habits. McNeil was correct in stressing that surgery should be reduced to a minimum compatible with sound clinical reasoning and accepted surgical principles. Whereas McNeil states that his procedure stimulates palatal growth, thereby narrowing the cleft space, Berkowitz’s [35] 3D palatal growth studies – using a sample of cases that have not had neonatal maxillary orthopedic treatment and a control sample of noncleft cases – show that growth occurs spontaneously. This is an expression of the palate’s inherent growth potential, which can vary among patients. Berkowitz concluded that “catch-up growth” can occur after palatal surgery (with minimum scarring) is performed (see Chap. 16).

4.1.4.2 The Need to Prevent Collapse McNeil [13–15] further believes that the palatal segments should be manipulated to an ideal relationship prior to lip surgery to prevent them from moving too far medially and becoming collapsed with the buccal segments in crossbite. This, he suspects, will lead to abnormal movements of the tongue and give rise to faulty respiratory, sucking, and swallowing patterns, also causing abnormal growth and development of the palatal structures. Mestre et al. [36], studying palatal size in a cleft population that had not been operated on, report that the development of the maxilla appears to be normal in unoperated cases. They do conclude that it is the type, quality, and extent of the surgery that determines the effect on maxillary growth and that osteogenic deficiency does exist to varying degrees. Our research on serial palatal growth changes supports this conclusion that palates with clefts are highly variable in size, shape, and osteogenic deficiency. Unfortunately, McNeil’s interpretation of the effects of clefting on the various vegetative functions, and in reducing palatal growth, has not been supported by controlled objective research. The inability of the manipulated arch to remain intact after lip surgery, and not move medially into a collapsed relationship, has led many clinicians to question the accuracy of McNeil’s other stated benefits such as reduction of middle ear infections. McNeil [13–15] made other faulty observations. Among them: 1. He mistakenly believed that the orthopedic appliance will stimulate the underdeveloped cleft segment in unilateral clefts of the lip and palate (UCLP) to move forward, to make contact with the premaxillary portion of the greater segment and both palatal segments in bilateral clefts of the lip and palate (BCLP), after the lip is united. Even as early as the 1960s, many orthodontists found the opposite to be true. In UCLP, the premaxillary portion of the larger segment moves medially and backward to make contact with the lesser segment due to the action of compressive lip muscle forces. If McNeil had had the benefit of serial casts, his interpretation of clinical events would, I am confident, have been totally different. 2. McNeil’s claim that the lesser segments in UCLP, and both segments in BCLP, can be stimulated to grow forward is totally erroneous. His conclusions were based on conjecture, not on objective data. The results of Berkowitz’s 3D palatal growth studies [37] show marked acceleration in palatal growth during the first 2 years without orthopedic treatment, with most of the growth changes occurring at the area of the maxillary tuberosity and not

Chapter 4

at the anterior portion of the palate except for alveolar growth associated with canine development (Fig. 4.2). Movement of the cleft palatal segment anteriorly is only possible as a result of reactive mechanical forces being applied through the use of pinned maxillary orthopedic appliances or from a protraction facial mask. One last but significant characterization of a newborn cleft of the lip and palate needs to be refuted. McNeil states that “in BCLP lateral segments are collapsed toward the midline before birth.” However, he does not explain the dynamics that can make this possible. How can segments be collapsed if there are no inwardly directed forces from the cleft lip-cheek muscle complex, especially when the tongue fits within the cleft space and acts to move the palatal segments apart? Enlow’s [1] report on current thinking on palatal growth processes delivers McNeil’s thesis a mortal blow. Enlow[1] writes that recent research has shown that pressure is detrimental to bone growth. Bone is necessarily both a traction- and pressureadapted kind of tissue. The periosteal membranes are constructed to function in a field of tension (as by the pull of a muscle). Covering membranes are quite sensitive to direct compression because any undue amount causes vascular occlusion and interference with osteoblastic formation of new bone. Osteoclasts, conversely, function to “relieve” the degree of pressure by removing bone. Bone is pressure sensitive and high-level pressure induces resorption. Moss et al. [38], responding to the role of nasal septal cartilage in mid-facial growth as put forth by Scott [4, 12], states that Scott’s hypothesis is based on the following assumptions: (1) that in the fetal skull, the original nasal capsule and its derivatives are cartilaginous; (2) that all cranial cartilaginous tissues (septal, condylar, or in synchondroses) are primary growth centers, by virtue of the undoubted ability of all cartilaginous tissues to undergo interstitial expansive growth; and (3) that following the prenatal appearance of the intramembranous vomer (and of the several endochondral ossification centers of the ethmoid sinuses and the turbinates) the remaining unossified portions of the cartilaginous nasal capsule continue to be capable of such interstitial expansion. Moss further suggests that the nasal septal cartilage grows as a secondary, compensatory response to the primary growth of related oro-facial matrices and that mid-facial skeletal growth is not dependent on any prior, or primary, growth “impetus” of the nasal septal cartilages. In Scott’s hypothesis, it is assumed that cartilaginous interstitial growth is the major source of the expansive force that “pushes” on the subjacent mid-fa-

Familial Exudative Vitreoretinopathy

cial skeletal structures, causing both vertical and anteroposterior growth. Moss believes that it has been demonstrated repeatedly that growth in size and shape, as well as the changes in spatial position, of all skeletal units is always secondary to primary changes in their functional matrices. This secondary skeletal unit growth comes about in the following manner. All cranial bones and cartilages originate and grow within soft tissue capsules. The splanchnocranial skeleton exists within an oro-facial capsule. The primary growth of the enclosed oro-facial matrices causes the oro-facial capsule to expand responsively. Because the splanchnocranial bones are within this capsule, they are passively translated in space within their expanding capsule. As a result of such spatial displacement, the individual bones will be distracted (or separated) passively from one another. The increments of growth observed at the sutural edges of these bones, and at the mandibular condylar cartilages, are secondary, compensatory, and mechanically obligatory responses of the skeletal units to such separative movements (i.e., the alterations of size and shape in bones and cartilages are responses to matrix growth, not the cause of it). The nasal skeleton is characterized by a relatively great normal variation in form. The nasal capsule (and septum), from its inception, serves to protect and support the functional spaces for respiration and olfaction. In human, the olfactory spaces are fully formed at birth. Postnatal cavity growth exclusively increases the respiratory functioning space. The growth of the upper face is, in part, a response to the functional demands for increased respiratory volume. The nasal cavity is not a space haphazardly left over after the upper facial structures complete their growth. On the contrary, the expansion of the nasal cavity is the primary morphogenetic event; and nasal capsular growth, both osseous and cartilaginous, is secondary. The application of the theory of functional cranial analysis to nasal and mid-facial skeletal growth demonstrates that the growth of each of these two areas is independent of the other and that the nasal septal cartilage plays a secondary compensatory role, rather than a primary morphogenetic one. At present, the nasal septum theory is somewhat accepted as a reasonable explanation by a number of clinicians who favor presurgical orthopedic treatment, although it is universally realized that much more needs to be understood about facial growth processes [39]. (The use of presurgical orthopedic treatment is covered in greater detail in Chaps. 18–22.) Clinically, there seems to be more support for the functional matrix theory than the nasal septum theory. Unfortunately, McNeil, in espousing Scott’s theory to explain the “retropositioned maxillary complex rel-

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ative to the mandible and osteogenically deficient palatal processes” in complete clefts of the lip and palate, did not have access to serial palatal and facial growth records to support such a view. However, Berkowitz’s [40] serial casts study of CUCLP and CBCLP cases using the Angle occlusal classification system, which is the most reliable means of judging the geometric relationship of the maxillary to the mandibular arches within the face, showed that at 3–6 years of age, the teeth in the lateral palatal segments were in either a Class I or Class II relationship but were never in a Class III relationship. On this basis, one can conclude that it is not the lack of a growth impetus from the nasal septum that explains the presence of a small cleft palatal segment at birth. If palatal osteogenic deficiency does exist, it can more accurately be explained in relationship to the embryopathogenesis of facial development: the failure of migrating undifferentiated mesenchymal cells from the neural crest to reach the facial processes [41, 42] (see Chap. 1).

4.1.5

Basion Horizontal Concept: The Direction of Facial Growth (Figs. 4.3–4.5) [43]

No discussion on craniofacial growth is complete without including Coben’s Basion Horizontal Concept of the direction of facial growth. Basion Horizontal is a concept based on a plane at the level of the anterior border of foramen magnum parallel to Frankfort horizontal where Basion is the point of reference for the analysis of craniofacial growth. Coben states that the growth concept which Basion Horizontal represents is that craniofacial growth is reflected away from the foramen magnum (Basion) and the vertebral column. The cranio-maxillary complex housing the maxillary dentition is translated upward and forward from Basion by growth of the cranial base. Growth of the mandible is reflected away from Basion, carrying the mandibular dentition downward and forward. The divergence of the two general vectors develops space for vertical facial growth and the eruption of the dentition. Normal maxillo-mandibular development requires synchronization of the amount, timing, and direction of growth of the cranio-maxillary complex and of the mandible. The cranial base vector represents the upward and forward translation of the upper face by growth of the spheno-occipital synchondrosis, while growth of the spheno-ethmoidal/circumaxillary suture system and the nasal septum increases the depth and height of the upper face. The Basion–Articulare dimension is essentially stable postnatally, indicating that the mandible main-

Fig. 4.3. Postnatal craniofacial growth systems to the age of 7 years (first decade). Cartilaginous growth: SO, Spheno-occipital synchondrosis; C, reflection of condylar mandibular growth; NS, nasal septum. Spheno-ethmoidal circumaxillary suture system: se, Spheno-ethmoidal; ptp, pterygopalatine; pm, palatomaxillary; fe, fronto-ethmoidal; em, ethmoidal-maxillary; lm, lacrimal-maxillary; fm, frontomaxillary; zm, zygomaticomaxillary; zt, zygomaticotemporal (not shown). Surface apposition-modeling resorption development (stippled area): minor contribution. (Reprinted from [43])

tains a constant sagittal spatial relation to the foramen magnum as the reflection of mandibular growth carries the lower teeth downward and forward, away from the cranial base. There are two distinct phases of craniofacial growth because of a change in the system of upper facial development after the approximate age of 7 years. Before age 7, growth of the upper face is dominated by the nasal septum, the eyeballs, and the spheno-ethmoidal/circumaxillary suture system (Fig. 4.4). At this age, the growth in this suture system produces space for the eruption of the maxillary first molars. Longitudinal cephalometric findings of a continuous increase in the Sella–Frontale dimension with little increase in the thickness of the frontal bone before age 7 support the concept that bone apposition and remodeling resorption are minor factors in these early years.

Chapter 4

Familial Exudative Vitreoretinopathy

a

Fig. 4.4. Postnatal craniofacial growth systems from age 7 years (second decade). Cartilaginous growth: SO, Spheno-occipital synchondrosis-active through puberty; C, reflection of condylar mandibular growth – active to facial maturity; nasal septum – growth completed. Spheno-ethmoidal circumaxillary suture system: Sutural growth no longer primary system of upper facial development. Surface apposition-modeling resorption development (stippled area): Now major method of upper facial development and alveolar growth [43]

At about age 7, the growth system of the upper face changes with the closure of the spheno-ethmoidal suture. The Sella–Frontale dimension stabilizes, and the thickness of the frontal bone begins to increase by surface apposition and remodeling until maturity. The interpretation is that after age 7, the initial primary system of spheno-ethmoidal/circumaxillary sutural growth of the upper face is replaced by surface apposition and remodeling resorption (Fig. 4.4). It is significant that, before age 7, space for the erupting upper first molars results from growth of the sphenoethmoidal/circumaxillary suture system. After age 7, space for the upper second and third molars is produced by maxillary alveolar apposition as the maxillary dentition erupts downward and forward. This concept was supported by Scott [12], who reasoned that the spheno-ethmoidal suture must be viewed as

b Fig. 4.5. a Basion Horizontal. General vectors of craniofacial

growth. Growth of the cranial base translates the upper face and the maxillary dentition upward and forward away from the foramen magnum. Growth of the mandible translates the lower dentition downward and forward. The two diverging vectors create space for vertical facial development and tooth eruption. [43] b Basion Horizontal. Basion Horizontal Coordinate computer Craniofacial serial schematic line graph of Fig. 4.5a

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Fig. 4.6. Various growth changes that occur, the condylar head determine the direction and extend of mandibular growth

part of the major circumaxillary suture system, and that once part of the suture closes, there is no further growth in that suture system. Longitudinal cephalometric growth studies confirm this interpretation (Fig. 4.5).

4.2

Mandibular Development in Cleft Palate (Figs. 4.6, 4.7)

Recent studies have revealed a series of often subtle differences in the morphology of the mandible in persons with cleft lip and/or palate. Dahl [44] and Chierici and associates [45] found that, in persons with

Chapter 4

a

Familial Exudative Vitreoretinopathy

c

b

Fig. 4.7 a–c. Facial growth rotations resulting form differential vertical growth. a Hyperdivergent pattern with posterior growth rotation. b Neutral growth pattern. c Hypodivergent

series is not a true reflection of the growth of various components of the face. See Coben’s Basion Horizontal, Coordinate Craniofacial Analysis system for this (Fig. 4.5)

growth pattern with anterior growth rotation.Comment: This

clefts of the hard palate only, the mandibular plane was steeper and the gonial angle more obtuse than in a normal population. Mazaheri and coauthors [46] noted that the length and width of the mandible were significantly less in persons with cleft palate only than in those with cleft lip and palate (CLP) and normal groups. Aduss [47] observed that the mandibular gonial angle in patients with unilateral CLP was more obtuse, and that the anterior cranial base appeared to be elevated. Rosenstein [48] also found the mandibles to be smaller, with steeper mandibular plane angles. Bishara [49] studied Danish children with repaired cleft palates only. In that study, and again in a later study of patients with CUCLP [50], he noted that the mandible was significantly more posterior in relation to the cranial base and that its mandibular plane was steeper than normal.

Krogman and colleagues [51] found no difference in mandibular dimensions in the BCLP population, other than a more obtuse gonial angle. They also found the temporomandibular joint to be positioned farther back, so that its effective length was less than in the normal population. Robertson and Fish [52], comparing mandibular arch dimensions, found no significant differences between normal and cleft children either at birth or at 3 years of age.

4.3

Patterns of Postnatal Growth

Based on the serial studies, three general patterns of postnatal growth have been demonstrated. In the Pierre Robin sequence, and in complete bilateral clefts of the lip and palate, most cases demonstrate substan-

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a

b

d

c

e

Fig. 4.8 a–f. Not all faces are the same, therefore treatment

most vary according to the facial growth pattern. Various types of facial patterns. a Retrognathic mandible with steep mandibular plane angle. Severe overbite and overjet. Chronic mouth breather. b Prognathic mandible with recessive maxilla. c Brachyfacial type with dental protrusion. d Slightly retro-

tial improvement through “catch-up” in the growth of the mandible. In the second pattern, mandibulofacial dysostosis, the pattern of growth is such that the deformity observed in infancy or early childhood is maintained throughout the growth period. The deformity of the mandible neither improves nor worsens in the course of time. The third pattern is one in which the growth process is so deranged that the severity of the deformity increases with age. This has been observed in some instances of unilateral agenesis of the mandibular ramus (e.g., hemifacial microsomia) and in the growth of the maxilla and neurocranium in some forms of premature craniofacial synostosis.

f

gnathic type with protrusive maxillary denture and severe deep bite. e Long shallow face with severe tongue problem, extremely wide openbite, and an inability to close the lips. f Extremely closed bite with short denture height. (Courtesy of R. Ricketts. The Biology of Occlusion and the Temporomandibular Joint in Modern Man, 1972)

4.3.1

Bone Remodeling During Growth (Fig. 4.8)

Enlow [1] states that remodeling is a basic part of the growth process. The reason why a bone must remodel during growth is because its regional parts become moved; “drift” moves each part from one location to another as the whole bone enlarges. This calls for sequential remodeling changes in the shape and size of each region. The ramus, for example, moves progressively posteriorly by a combination of deposition and resorption. As it does so, the anterior part of the ramus becomes remodeled into a new addition for the mandibular corpus. This produces a growth elongation of the corpus. This progressive, sequential movement of component parts as a bone enlarges is termed relocation. Relocation is the basis for remodeling. The whole ramus is thus relocated posteriorly, and the posterior part of the lengthening corpus becomes relocated into the area previously occupied by the ra-

Chapter 4

mus. Structural remodeling from what used to be part of the ramus into what then becomes a new part of the corpus takes place. The corpus grows longer as a result.

4.3.2

Maxillary Growth

The maxilla grows downward and forward from the cranial base with growth occurring at the articulations with other bones (i.e., the sutures). Björk [53] stated that during growth the maxilla is displaced in a rotational manner relative to the cranial base; however, this rotational aspect is small, which results in the downward and forward effect. Furthermore, he emphasized that there is little variation in the upper facial height between groups. Therefore, because of the small variation, it is likely that individual difference in facial form results from growth in other facial areas where there is more variation.

References 1. Enlow DH. Introductory concepts of the growth process. Handbook of facial growth. Philadelphia: W.B. Saunders; 1975. p12. 2. Moss ML. The primary role of functional matrices in facial growth. Am J Orthod 1969; 55:566. 3. Moss ML. The functional matrix. In: Kraus BS, Riedel RA eds.Vistas of Orthodontics. Philadelphia, Pa: Lea & Febiger; 1962. 4. Scott JH. The cartilage of the nasal septum. Br Dent J 1953; 95:37–43. 5. Scott JH. The growth of the human face. Proc Roy Soc Med 1954; 47:91–100. 6. Scott JH. Craniofacial regions: Contribution to the study of facial growth. Dent Pract 1955; 5:208. 7. Scott JH. Growth of facial sutures. Amer J Orthod 1956; 42:381–387. 8. Scott JH. The growth in width of the facial skeleton. Am J Orthod 1957; 43:366. 9. Scott JH. The cranial base. Am J Phys Anthropol 1958; 16:319. 10. Scott JH. The analysis of facial growth. Part I. The anteroposterior and vertical dimensions. Am J Orthod 1956; 44:507. 11. Scott JH. The analysis of facial growth. Part II. The horizontal and vertical dimensions. Am J Orthod 1958; 44:585. 12. Scott JH. Further studies on the growth of the human face. Proc Roy Soc Med 1959; 52:263. 13. McNeil CK. Orthodontic procedures in the treatment of congenital cleft palate. Dental Record 1950; 70,126–132. 14. McNeil CK. Oral and Facial Deformity. London: Sir Isaac Pitman and Sons, 1954. 15. McNeil CK. Orthopedic principles in the treatment of lip and palate clefts. In: Hotz R (ed.). Early treatment of cleft lip and palate, International Symposium. Berne: Hans Huber; 1964. p. 59–67.

Familial Exudative Vitreoretinopathy 16. Burston WR. The pre-surgical orthopaedic correction of the maxillary deformity in clefts of both primary and secondary palate. In: Wallace: AB (ed.). Transactions of the International Society of Plastic Surgeons, Second Congress, London, 1959. London: E&S Livingston Ltd; 1960. p. 28–36. 17. Burston WR. The early orthodontic treatment of alveolar clefts. Proc R Soc Med 1965; 58:767–771. 18. Burston WR. Treatment of the cleft palate. Ann R Coll Surg Engl 1967; 25:225. 19. Burston WR. The early orthodontic treatment of cleft palate conditions. Dent Pract 1985; 9:41–56. 20. Crikelair GF, Bom AF, Luban J, Moss M. Early orthodontic movement of cleft maxillary segments prior to cleft lip repair. Plastic Reconstr Surg 1962; 30:426–440. 21. Cronin TD, Penoff JH. Bilateral clefts of the primary palate. Cleft Palate J 1971; 8:349–363. 22. Derichsweiler H. Some observations on the early treatment of harelip and cleft palate cases. Trans Europ Orthod Soc 1958; 34:237–253. 23. Dreyer CJ. Primary orthodontic treatment for the cleft palate patient. J Dent Assoc S Africa 1962; 13–119. 24. Georgiade N. The management of premaxillary and maxillary segments in the newborn cleft patient. Cleft Palate J 1970; 7:411. 25. Georgiade NG, Latham RA. Intraoral traction for positioning the premaxilla in the bilateral cleft lip. In: Georgiade NG, Hagerty RF (eds.). Symposium on management of cleft lip and palate and associated deformities. St. Louis: Mosby; 1974. p. 123–127. 26. Georgiade NG, Latham RA. Maxillary arch alignment in the bilateral cleft lip and palate infant, using the pinned coaxial screw appliance. J Plast Reconstr Surg 1975; 52:52–60. 27. Graf-Pinthus B, Bettex M. Long-term observation following presurgical orthopedic treatment in complete clefts of the lip and palate. Cleft Palate J 1974; 11:253–260. 28. Hellquist R. Early maxillary orthopedics in relation to maxillary cleft repair by periosteoplasty. Cleft Palate J 1971; 8:36–55. 29. Huddart AG. Presurgical changes in unilateral cleft palate subjects. Cleft Palate J 1979; 16:147–157. 30. Kernahan DA, Rosenstein SW (eds.) Cleft lip and palate, a system of management. Baltimore: Williams and Wilkins; 1990. 31. Krischer JP, O’Donnell JP, Shiere FR. Changing cleft widths: A problem revisited. Am J Orthod 1975; 67:647–659. 32. Latham R. A new concept of the early maxillary growth mechanism. Trans Eur Orthod Soc 1968; 53–63. 33. Robertson N. Recent trends in the early treatment of cleft lip and palate. Dent Pract 1971; 21:326–338. 34. Monroe CW, Rosenstein SW. Maxillary orthopedics and bone grafting in cleft palate. In: Grabb WC, Rosenstein SW, Bzoch KR (eds.) Cleft lip and palate. Boston: Little, 1971. p. 573–583. 35. Berkowitz S. Cleft palate. In: Wolfe SA, Berkowitz S (eds.) Plastic surgery of the facial skeleton. Boston: Little, Brown; 1989. p. 291. 36. Mestre J, Dejesus J, Subtelny JD. Unoperated oral clefts at maturation. Angle Orthod 1960; 30:78–85. 37. Wolfe SA, Berkowitz S. The use of cranial bone grafts in the closure of alveolar and anterior palatal clefts. Plast and Reconstr Surg 1983; 72:659–666. 38. Moss ML, Brombery BE, Song C, Eiseman X. Passive role of nasal septal cartilage in midfacial growth 1968; 41:536–542.

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S. Berkowitz 39. Moss ML. The primacy of functional matrices in orofacial growth. Dent Pract 1968; 19:65. 40. Berkowitz S. Timing cleft palate closure-age should not be the sole determinant. J Craniofac Gen and Devel Biol 1985; 1 (Suppl):69–83. 41. Millard DR Jr. Alveolar and palatal deformities. In: Cleft craft – the evolution of its surgery – III. Boston: Little, Brown; 1980. p. 284–298. 42. Ross RB, Johnston MC. Cleft lip and palate. Baltimore: Williams and Wilkins; 1972. 43. Coben SE. Basion Horizontal – an integrated concept of craniofacial growth and cephalometric analyses. Jenkintown, PA: Computor A Cephalometrics Associated; 1986. 44. Dahl E. Craniofacial morphology in congenital clefts of the lip and palate – an x-ray cephalometric study of young adult males. Acta Odontol Scand 1970; 28(Suppl.):57. 45. Chierici G, Harvold EP, Vargevik K. Morphogenetic experiments in cleft palate: Mandibular response. Cleft Palate J 1973; 10:51–61. 46. Mazaheri M, Harding RL, Cooper JA, Meier JA, Jones TS. Changes in arch form and dimensions of cleft patients. Am J Orthod 1971; 60:19–32.

47. Aduss H. Craniofacial growth in complete unilateral cleft lip and palate. Cleft Palate J 1971; 41:202–212. 48. Rosenstein S. Orthodontic and bone grafting procedures in a cleft lip and palate series: an interim cephalometric evaluation. Angle Orthod 1975; 45:227–237. 49. Bishara SE. Cephalometric evaluation of facial growth in operated and non-operated individuals with isolated clefts of the palate. Cleft Palate J 1973; 3:239–246. 50. Bishara SE, Sierk DL, Huang KS. A longitudunal cephalometric study on unilateral cleft lip and palate subjects. Cleft Palate J 1979; 16:59–71. 51. Krogman WM, Mazaheri M, Harding RL, Ishigura K, Bariana G, Meir J, Canter H, Ross P. A longitudinal study of the craniofacial growth pattern in children with clefts as compared to normal birth to six years. Cleft Palate J 1975; 12:59–84. 52. Robertson NRE, Fish J. Early dimensional changes in the arches of cleft palate children. Am J Orthod 1975; 67: 290–303. 53. Björk A. The use of metallic implants in the study of facial growth in children. Method and application. Am J Orthod 1975; 67:290–303.

5

Alternative Method Used to Correct Distorted Neonatal Cleft Arch Forms Samuel Berkowitz

5.1

Effects of Reversing the Facial Force Diagram

The influence of soft-tissue forces on palatal form and growth has been the topic of several studies. Ritsila and coauthors [1] reported that there was “slight shortening” of the maxilla, “marked shortening” of the body of the mandible, and alterations of several mandibular angles after closure of the lip. As perhaps an interesting footnote [1, 2], physical changes to the palate in clefts of the lip and palate in animals are very similar to the corresponding changes that are seen in humans. Bardach et al. [1, 2] studied lip pressure changes following lip repair in infants with unilateral clefts of the lip and palate. They confirmed the belief that lip repair significantly increases lip pressure when compared with a noncleft population. Berkowitz’s [3, 4] data demonstrated that the force of the united lip against the protruding premaxilla in complete bilateral clefts of the lip and palate (CBCLP) acts first to bring about premaxillary ventroflexion. After 2–3 years there is some appearance of midfacial growth retardation to various degrees. There is strong evidence that uniting the lip does not “telescope” the premaxilla into the vomer, whereas mechanical premaxillary retraction “telescopes” the premaxilla in almost all instances (see the Chap. titled Neonatal Maxillary Orthopedics). In very rare instances it may even cause a vomer fracture.

5.2

Variations in the Palate’s Arch Form

The size and relationship of the palatal segments to each other are highly variable (see the Chap. titled The Effect of Clefting of the Lip and Palate on the Palatal Arch Form; Figs. 6.8, 6.9). As already described, in complete clefts of the lip and palate, the lateral palatal segments are displaced laterally and the slopes of both

palatal segments are steeper than normal, with the palatal segments at the cleft space extending into the nasal chamber [5]. This steepness decreases with time, the slopes becoming more obtuse under the influence of tongue force. In clefts of the lip and palate, uniting the cleft orbicularis oris-buccinator superior constrictor muscle ring or using external facial elastics re-establishes the outer compressive muscular forces. This change in the muscle force vectors causes the laterally displaced palatal segments to move together. Moreover, this reduction in the width of the cleft is not limited to the alveolar process but extends as far back as the tuberosities of the maxilla and perpendicular pterygoid processes. The surgeon is challenged to establish muscle balance without disturbing the growth potential of the bony tissue being manipulated and to avoid scars that will tie or bind down the normally expansive forces of growth.

5.3

Reversing Aberrant Cleft Facial Forces in the Neonate

5.3.1

Lip Surgery, Elastic Traction, or Presurgical Orthodontic Treatment (Figs. 5.1–5.4)

1. Lip Surgery creates sufficient forces to bring the overexpanded palatal segments medially narrowing the alveolar and palatal cleft spaces. The surgeon often does this in two stages: First a lip adhesion at 3–5 months followed by a more definitive lip/nose surgery, which is more artistic. A cupid bow and normal nostrils are the eventual goals. (see Chap. 15)

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a

c

b

d

e

f Fig. 5.1 a–f. The use of an external elastic force to reduce premaxillary protrusion. a and b The protruding premaxilla extends forward in the facial profile. c Head bonnet with attached

elastic placed against the protruding premaxilla causes it to ventroflex with the fulcrum at the premaxillary vomerine suture. d and e Facial photographs at 3 years of age. The lateral lip elements are united with the medial positioned prolabium over the protruding premaxilla in one stage. Because the premaxilla is already ventroflexed at the time of surgery, there is

reduced muscle tension at the suture sites. f Intraoral photograph shows excellent anterior and buccal occlusion even with bilateral deciduous cuspids in crossbite. Comment: A severe overbite or overjet with a buccal crossbite at this age does not create a functional dental problem or inhibit palatal growth. Midfacial protrusion is expected and even desirable at this age. A straight profile in the mixed dentition usually indicates a concave profile will develop in adolescence after the pubertal growth spurt

Chapter 5

Alternative Method

a

b

c

f

d

e

2. Head Bonnet with Elastic Strap to be Placed over the Premaxilla in all Lip Clefts. The force system needs to be worn for 1 or 2 weeks along with arm restrains to prevent the infant overjet from removing the elastic strap. A premaxillary ventroflexion in CBCLP cases occurs very quickly creating an overjet and overbite. In CBCLP with a protruding

37

Fig. 5.2 a–f. Case MD (AM-17). Conservative surgery with no presurgical orthopedics in CUCLP. Lip adhesion to start molding action to bring the separated palatal segment together. a At birth. b After lip adhesion at 5 months. c After definitive lip surgery at 9 months. d and e Facial appearance at 8 years of age. f Occlusion at 8 years. The right deciduous lateral incisor erupted through a secondary alveolar bone graft performed at 7 years of age using cranial cancellous bone

premaxilla at birth, the lateral palatal segments move medially behind the premaxilla. This relationship does not cause palatal growth retardation. Should a crossbite occur, the involve palatal segment usually can be moved laterally into proper occlusion at 4–6 years of age when the child is manageable in a dental chair.

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a

b

d

g

c

e

h

f

i

Fig. 5.3 a–i. Presurgical orthopedic treatment (PSOT) appliance for a CUCLP utilized from birth to 1 year 11 months at the University of Nijmegen (Courtesy of AM Kuijpers-Jagtman). a Lip and nose distortion at birth; b tongue posture within the cleft; c orthopedic appliance; d orthopedic plate prevents

the tongue from entering the cleft; e 15 weeks after PSOT and before lip closure; f 6 weeks after palate closure; g 17 months before soft palate closure; h at 14 months of age, before soft palate closure; i 8 weeks after lip closure

3. Presurgical Orthopedics: There are active and passive appliances, which are designed to create an alveolar butt joint [6]. In the distant past, primary bone grafting was utilized with the hope of stabilizing the palatal segment’s position. However, with primary bone grafting it was found to cause midfacial deformity. Berkowitz in a recent longitudinal

palatal growth study [7] determined that the plates do not stimulate growth. Some surgeons who have used gingivoperiosteoplasty have created an anterior crossbite in most instances, which is hard to correct with expansion. Berkowitz strongly rejects the use of primary bone grafting and gingivoperiosteoplasty (see Chap. 20).

Chapter 5

a

b

e

f

h

l

i

Alternative Method

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c

d

g

j

k

Fig. 5.4 a–l. Presurgical orthopedic treatment from birth to 1 year for a CBCLP at the University of Nijmegen (Courtesy of AM Kuijpers-Jagtman). Lip closure at 1 year of age. Hard palatal cleft is closed between 6 and 9 years of age together with bone grafting of the alveolar cleft. a, b, and c Facial photographs and palatal cast at birth; d 6 months after wearing PSOT appliance; e presurgical orthopedic appliance, and when placed on the palate; f wearing appliance; g 8 weeks after lip closure; h at birth; i after 6 months of PSOT and before lip closure; j 8 weeks after lip closure; k 1 year and 6 months, before soft palate closure; l 6 weeks after soft palate closure

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References 1. Ritsila V, Alhopuro S, Gylling U, Rintala A. The use of free periosteum for bone restoration in congenital clefts of the maxilla. Scand J Plast Reconstr Surg 1972; 6:57–60. 2. Bardach J, Mooney M, Giedrojc-Juraha ZL. A comparative study of facial growth following cleft lip repair with or without soft tissue undermining: An experimental study in rabbits. Plast Reconstr Surg 1982; 69:745–753. 3. Berkowitz S, Pruzansky S. Stereophotogrammetry of serial cast of cleft palate. Angle Ortho 1969; 38:136–149. 4. Berkowitz S. Growth of the face with bilateral cleft lip from 1 month to 8 years of age. Chicago: University of Illinois, School of Dentistry; 1959. Thesis.

5. Berkowitz S. Timing cleft palate closure-age should not be the sole determinant. J Craniofac Genet and Devel Biol 1985; 1(Suppl): 69–83. 6. Berkowitz S, Mejia M, Bystrik A.A comparison of the effects of the Latham-Millard procedure with those of a conservative treatment approach for dental occlusion and facial aesthetics in unilateral and bilateral complete cleft lip and palate: Part 1. Dental occlusion. Plast Reconstr Surg 2004; 113: 1–18. 7. Berkowitz S, R. Duncan R, Prahl-Andersen B, Friede H, Kuijpers-Jagtman AM, Mobers MLM, Evans C, Rosenstein S. Timing of cleft palate closure should be based on the ratio of the area of the cleft to that of the palatal segments and not on the age alone. (In press)

6

The Effect of Clefting of the Lip and Palate an the Palatal Arch Form Samuel Berkowitz

6.1

Varieties of Cleft Lip and Cleft Palate

6.1.1

Action of Intact Facial Muscular Forces an the Maxilary Arch

In a normal jaw with intact lips and palate, the muscles of the lip, cheek, and pharynx exert their normal sphincter-like actions against the developing maxillary and mandibular arches. The compressive external muscular forces neutralize the expansion forces of the tongue (Fig. 6.1). The neonatal arch form changes as these forces change with growth and maturation; yet the opposing muscles always maintain a precise and dynamic balance with each other.When this muscular balance is upset, the arch form and teeth relationships change.

a Fig. 6.1. The balance between facial and tongue muscle forces. a The outer muscles, the orbicularis oris, buccinator, and supe-

rior constrictor muscles, form a ring which acts to compress the palatal and mandibular arches with the teeth. b The tongue

6.2

Aberrant Muscle Forces in Clefts of the Lip and Palate

A cleft of the lip and palate is the result of the failure of lip elements, and right and left palatal segments, to come together within the first 9 weeks of fetal life. The loss of muscular continuity of the orbicularis orisbuccinator-superior constrictor ring in complete unilateral and bilateral clefts changes the normal muscular force diagram. The aberrant muscular forces act to displace tissue masses. In complete clefts of the lip and palate, if the lateral palatal cleft segments are detached from the vomer, they will be pulled laterally by the external aberrant lip-cheek muscular forces, as well as spread apart by the tongue pushing into the cleft space (Fig. 6.2). Because clefts differ in their location and extent, lip and palate clefts can vary in the

b

force acts to expand the dental arches and teeth. Whether the teeth and arches align is determined by the resultant of these forces

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a

b

Fig. 6.2 a–c. Effects of complete clefts of the lip and palate at

birth. In complete cleft lip and palate, with a separation in the orbicularis oris (a) -buccinator (b) -superior constrictor (c) muscle ring, the aberrant muscle forces plus the plunger action of the tongue causes the palatal segments to be pulled and pushed apart. a In bilateral clefts of the lip and palate, the premaxilla may be laterally or ventrally flexed with the fulcrum at

degree of geometric distortion, as well as in the size and shape of the cleft palatal segments. The muscular forces that act on the bony scaffolding of the palate and pharynx begin very early in intrauterine life; therefore, the palatal and facial configuration at birth has been formed over the major portion of the infant’s existence prior to birth. In complete unilateral clefts of the lip and palate (CUCLP), the premaxillary portion of the noncleft segment is pulled antero-laterally. In addition to the lateral displacement of the lateral palatal segments, the premaxilla in the larger segment is carried forward in the facial skeleton. In complete bilateral cleft lip and palate (CBCLP), excessive growth in the

c

the premaxillary vomerine suture. b Complete unilateral clefts of the lip and palate at birth. The cleft’s lesser segment and the premaxillary portion of the larger segment (d) are pulled outward. c Cleft of the lip and alveolus. The bony distortion is determined by the extent of alveolar involvement. (Courtesy of J. D. Subtelny.)

premaxillary-vomerine suture is caused by increased tension at this site, precipitated by mechanical force stresses during periods of rapid growth (Berkowitz [1], Pruzansky [2, 3], Friede [4, 5]) (Fig. 6.3). This growth is continuous during early postnatal years and provides a fourth dimension to the deformity, which can alter the cleft palatal segments and their associated parts and either simplify or complicate treatment. If a soft tissue (mucous membrane, skin, and fibrous connective tissue), which collectively form Simonart’s band, bridges the alveolar cleft, the attached palatal segments are limited in their degree of geometric displacement.

Chapter 6

The Effect of Clefting of the Lip

c

a

Fig. 6.3 a–c. Skull with a bilateral cleft and palate. a The palatal

segments have been overexpanded and the premaxilla protruded by the resultant aberrant muscle forces. The premaxillaryvomerine suture separates the premaxilla and the vomer and is a growth site. b Lateral cephalometric tracing at birth. Lines connecting various landmarks create a polygon depicting their geometric relationships. This tracing of a CBCLP at birth shows the degree of premaxillary protrusion. S = Sella Turcica, N = Nasion, a = Alpha (the anterior extent of the premaxilla), Po = Pogonion, Gn = Gnathion, Go = Gonion, PVS = Premaxillary-vomerine suture. c Occlusal radiograph of the premaxilla and vomer showing the premaxillary vomerine suture (arrow)

b

6.3

Categories of Clefts

Depending on the elemental characteristics of the embryology, anatomy, and physiology of the cleft defect, the varieties of clefts of the lip and palate may be tabulated into four general categories: (1) those involving the lip and alveolus; (2) those involving the lip and palate; (3) those in which the palate alone is affected; and (4) congenital insufficiency of the palate. The term “palate” will include both the hard palate and the velum, or soft palate (Fig. 6.4).

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a

b

c

d

e

f

g

h

Fig. 6.4 a–h. The anatomic classification system is based on the location, completeness, and extent of the cleft deformity. Because the lip, alveolus, and hard palate develop from different embryonic sources, any combination of clefting can exist. a Cleft of the lip and alveolus. Normal palate. b Isolated cleft of the hard and soft palate. Normal lip and alveolus. c Cleft of the

6.3.1

Clefts of the Lip (Figs. 6.5 and 6.6)

A cleft of the lip may be complete, extending from the vermilion border to the floor of the nose, or it may be incomplete. There are various degrees of incomplete lip clefts. Minimal defects involving only the vermilion border are observed. In others, the defect may extend to the nose as a submucous cleft in the muscle band, bridged only by mucous membrane, skin, and fibrous connective tissue. The nasal alar cartilage on the side of the cleft is displaced and flattened to a greater or lesser degree, depending on the extent and width of the cleft. The tip of the nose is deviated toward the noncleft side. The cleft in the lip may be unilateral or bilateral, occurring on one or both sides, respectively. If bilateral, it may be symmetrical or asymmetrical, that is, it may or may not involve the lip equally on both sides (Fig. 6.5b). It should be noted that, in bilateral clefts, a median portion of the lip is isolated in the midline and remains attached to the premaxilla and to the columella. This portion of the lip contains the philtrum. In complete bilateral clefts of the lip, the premaxilla protrudes considerably forward of the facial profile (Fig. 6.5b). It is attached to a stalk-like vomer and to

soft palate and uvulae. d Cleft of the uvulae. e Complete unilateral cleft lip and palate. f Complete bilateral cleft of the lip and palate. g Incomplete bilateral cleft of the lip and palate. h Complete bilateral cleft of the lip and alveolus (Courtesy of Wolfe SA, Berkowitz S, eds. Plastic Surgery of the Facial Skeleton. Boston: Little, Brown and Co; 1989:292.)

the nasal septum. The columella appears to be deficient, and the alar cartilages are flattened on both sides. The effect on the facial profile is to accentuate further the protrusiveness of the premaxilla and the portion of the lip which is attached to the facial surface. The more complete the defect in the lip, the greater the influence of the cleft on the alveolar process. Because of this constant relationship between the lip and alveolar process, it is not necessary to include the alveolar process as a separate entity in this description and classification. The maxillary alveolar processes arise from the mesoderm in the depths of a sulcus separating the lip and palate, while the tegmen oris gives rise only to the soft palate and the central part of the hard palate. The relationship between the degree of the cleft’s effect on the alveolar process and defects in the deciduous and permanent dentition is interesting. The dental defect may be assessed in terms of the number of teeth, their shape, and structure as well as the position of the teeth in the dental arch. Irregularities in the alveolar process range from small dimples in association with minor clefts in the lip to actual grooves in the alveolar process to, in extreme cases of total clefts

Chapter 6

a

The Effect of Clefting of the Lip

b

Fig. 6.5. a Complete unilateral cleft lip and palate. The distorted nostril is caused by the aberrant lip muscle forces. b Com-

plete bilateral cleft lip and palate with a widely separated later-

al palatal segment. The protruding premaxilla extends forward of the lateral palatal segments and is attached to the vomer. The prolabium (central portion of the lip) overlies the premaxilla

Fig. 6.6 a, b. Incomplete clefts of the lip. a Unilateral b Bilateral

a

b

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S. Berkowitz

a

b

c

d

e

g

a

b

c

d

e

a

b

c

d

e

a

b

a

f

b

c

c

Fig. 6.7 a–e. Variations in the form, size, and extent of clefting in primary, secondary, and combined palatal clefts. Primary Palatal Clefts (with normal hard palate): Top row: a Normal lip; b–g The clefts may involve the lip only or may include the alveolus (toothbearing area) as well. The cleft can extend toward the nostril on one or both sides. Middle row, the cleft of the alveolus can extend to the incisal papilla on one or both sides to any degree. Bilateral alveolar clefts: c. incomplete on both sides; d incomplete on one side and complete on the opposite side; e complete on both sides. Secondary Palatal Clefts: a normal palate; b bifid uvula; c cleft of soft palate; d isolated cleft palate (moderate); e isolated cleft palate (extensive). Combined Palatal Clefts: Unilateral: a Isolated CP with cleft lip and alveolus; b Incomplete unilateral cleft lip and palate (IUCLP), cleft lip and alveolus are incomplete; c Complete unilateral cleft lip and palate (CUCLP); d Incomplete unilateral cleft lip and palate (IUCLP). Bilateral: a Complete bilateral cleft of lip and alveolus; b Bilateral-complete on one side, incomplete on the opposite with complete hard palate cleft; c Complete bilateral cleft of the lip and palate; d Bilateral incomplete alveolar cleft on one side, complete alveolar cleft on opposite side; e Complete bilateral alveolar clefts with both palatal segments attached to the vomer

d

d

in the alveolar ridge, displacement of the premaxillary segment toward the noncleft side. Small dimples or grooves in the alveolar ridge tend to fill in as the jaw grows. However, the deciduous lateral incisor that erupts in this area may be T-shaped, or otherwise misshapen, and malpositioned in the line of occlusion. Further documentation and analysis of serial records should provide detailed information concerning the eruption of teeth adjacent to the cleft in the alveolar process.

e

6.3.2

Cleft Lip and Cleft Palate (Fig. 6.7)

Clefts of both the lip and palate may be unilateral or bilateral. They may be complete or incomplete. In a complete unilateral cleft of the lip and palate, a direct communication exists between the oral and nasal cavities on the side of the palate where the cleft is situated. The nasal septum is attached to the palatal process on the opposite side, thus separating the nasal chamber from the oral cavity.

Chapter 6

The Effect of Clefting of the Lip

a

b

c

d

e

f

Fig. 6.8 a–f. Variations in unilateral clefts of the lip and palate at birth. The palatal segments may be complete (a, c, e and f) or incomplete (b and d); the cleft segment may be almost of the

same length or shorter. The cleft space may be relatively narrow (b and d) or wide (a, c, e and f)

A remarkable range of variation exists in each category. Indeed, various degrees of incompleteness of the cleft in the lip and palate may exist in combinations too numerous to describe conveniently. Moreover, some unilateral clefts of lip and palate exhibit wide separation of the palatal shelves. Others exhibit less separation, and in some cases, the segments actually overlap (Fig. 6.8). The palatal segment on the side of the cleft is often tilted medially and upward. The vomer is deviated from the midline at the line of attachment to the palatal process on the noncleft side. This deviation may be so extreme that the vomer assumes a nearly horizontal position at its inferior margin. The bilateral cleft lip and palate also may be complete or incomplete (Fig. 6.9). If incomplete, it may be symmetrical or asymmetrical, depending on the equality of involvement on both sides. In the complete bilateral cleft lip and palate, both nasal chambers are in direct communication with the oral cavity. The palatal processes are divided into two equal parts, and

the turbinates are clearly visible within both nasal cavities. The nasal septum forms a midline structure that is firmly attached to the base of the skull, but is fairly mobile in front where it supports the premaxilla and the columella. Cephalometric roentgenograms reveal the existence of a suture line, the premaxillary vomerine suture, between the vomer and the premaxilla. This suture plays an important role in facial growth, and is also a point of flexion for the premaxilla upon the vomer (Fig. 6.3b and c). The premaxilla may be small or large, symmetrical or asymmetrical. The number of incisor teeth contained in this segment is directly related to its size and shape. Permanent teeth may be missing and it may contain only 1 or more deciduos teeth when the cleft of the lip is complete on both sides, the premaxilla projects considerably forward from the facial aspect of the maxillae. This anterior protrusion is less evident if the lip is incompletely cleft on one or both sides.

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a

b

c

d

e

f

g

h

i

Fig. 6.9 a–i. Variations in bilateral cleft lip and palate. The size of the premaxilla varies with the number of teeth it contains. Classification is dependent on the completeness of clefting of the lip and alveolus and whether there is a cleft of the hard and soft palate. Yet one or both sides of the hard palate may or may not be attached to the vomer. If it is attached to the vomer, it is classified as being incomplete. Even in complete clefts of the lip and alveolus the extent of premaxillary protrussion will vary. a Incomplete bilateral cleft lip and palate. Complete cleft lip and palate – left side. Incomplete cleft lip and palate – right side. b Complete bilateral cleft lip and palate. Complete cleft palate –

6.3.3

Isolated Cleft Palate

In this defect, neither the lip nor the alveolar process is involved (Fig. 6.10). The cleft may involve only the soft palate or both the soft and hard palates, but never the hard palate alone. This observation is in accordance with the finding that fusion of the hard and soft palates proceeds from front to back (Fig. 6.11).

both sides. c Incomplete bilateral cleft lip and palate. Incomplete palatal clefts – both sides. d Complete bilateral cleft lip and palate. Incomplete right and complete left palate. e Incomplete bilateral cleft lip and palate. Incomplete left palate and complete right palate. f Complete bilateral cleft of the lip and palate. incomplete right and left palatal segments. g Complete bilateral cleft of lip and palate. Incomplete left palate and complete right palatal segment. h Complete bilateral cleft lip and palate. incomplete left palate and complete right palate. i Incomplete bilateral cleft lip and alveolus. Normal palate

The cleft may extend forward from the uvula to varying degrees. In some cases, the cleft is limited to the uvula or to the uvula and soft palate. In others, it may extend into the hard palate. It is recommended that a digital examination of the posterior edge of the hard palate be performed. A midline notching will reveal the presence of a submucous cleft. The full extent of submucous clefts can be mapped by cephalometric

Chapter 6

a

d

g

b

The Effect of Clefting of the Lip

c

e

f

h

laminagraphy or by transillumination through the nose. In the extreme form, the cleft palate may extend anteriorly as far as the nasopalatine foramen, the incisal canal.When the cleft involves a considerable portion of the hard palate, the nasal chambers are in direct communication with the oral cavity. In most instances, the nasal septum is not attached to either palatal process throughout the extent of the cleft. However, occasional asymmetries may be noted in which the septum is attached to a portion of the palatal process on one side to a greater extent than to the palatal process on the opposite side.

Fig. 6.10 a–h. Variations in isolated cleft palate. The length and width of the cleft space is highly variable. The cleft extends anteriorly to various distances but not beyond the incisal canal

The outline of the cleft may be wide or narrow, pyriform or V-shaped. Excessively wide dental arches often are associated with wide clefts that extend to a considerable degree into the hard palate. In such instances, the mandibular dental arch may be in complete lingual relation to the maxillary arch so that the cusps of the teeth do not interdigitate in occlusion. Lateral cephalometric headplates reveal that the dorsum of the tongue, at rest, is elevated and postured within the nasal cavity. During deglutition the thrusting action of the tongue operates to separate the palatal processes. These abnormalities in the posture

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S. Berkowitz Fig. 6.11. Graphic summary of palatal fusion. (Redrawn from illustration in Kraus, Kitamura, and Latham. Atlas of Developmental Anatomy of the Face. New York, N.Y.: Hoeber Medical Division of Harper and Row; 1966.) The measurements and estimated ages given should be regarded as averages

and movements of the tongue are supported by the observations of speech pathologists. In this type of cleft, the vomer is significantly different in size and form from that observed in bilateral cleft lip and palate. In both types, the vomer is seen as a midline structure extending downward from the base of the skull. However, in bilateral cleft lip and palate, the inferior border of the vomer is thick and rounded, whereas in this category – cleft palate only – the vomer is thin and knife-edged. Serial observations reveal that the pattern of growth exhibited by the vomer is different in these two types of clefts. Several other distinguishing characteristics apparent in some of the clefts in this category merit further comment. The high incidence of mandibular micrognathia found in patients with cleft palate gives credence to the theory that during embryonic development the tongue did not sink below the palatal processes, and thereby prevented their fusion in the midline. This raises the question of whether more than one causal mechanism might exist to produce the various kinds of clefts of the lip and palate. In an extensive study of the mode of inheritance of cleft lip and cleft palate, Fogh-Andersen [6, 7] concluded that there are two different malformations with no genetic connection. In one group are clefts that involve the lip and occur most frequently in male patients. The other group is limited to clefts of the

palate, which are more frequent in female patients. According to Fogh-Andersen, the manner of inheritance differs for the two groups.

6.3.4

Submucous Cleft Palate (Fig. 6.12)

The classic triad of diagnostic signs is the bifid uvula, partial muscle separation in the midline with an intact mucosal surface, and the midline notch in the posterior edge of the bony palate. Hypernasality may or may not exist. Caution needs to be exerted prior to performing tonsillectomies and adenoidectomies because the velum may be functionally too short without the presence of the adenoid mass. Berkowitz’s cephalometric and nasopharyngoscopic studies have shown wide and unpredictable variability in the pharyngeal skeletal architecture and velar size and shape in submucous cleft palate as well as in all other cleft types (see Chapter 28). In some cases, due to a shallow pharyngeal space with relatively good velar length and mass with good lateral pharyngeal wall movement, no hypernasality existed. However, in most cases, the velum is usually too short, as well as too thin, and it fails to obturate the pharyngeal space properly. The problem appears to be due to an inadequate velum rather than a deficiency in lateral wall movements.

Chapter 6

The Effect of Clefting of the Lip

a

b

c

d

Fig. 6.12 a–d. Submucous cleft palate. This cleft is character-

ized by a bifid uvula, lack of muscle continuity across the soft palate, and a pink zone of mucosa (zona pellucida) across the

The treatment of choice is a well-positioned and adequately wide superior-based pharyngeal flap. There is no apparent need to combine a palatoplasty with the pharyngeal flap. In patients with recurring infections of the adenoids, it is recommended that the adenoids be removed before the flap is placed. Speech therapy is an integral part of postoperative management.

6.4

Congenital Palatal Insufficiency (CPI)

It has been said that cleft palate is a type of defect that can be “seen, felt, and heard.” By contrast the defect known as congenital palatal insufficiency (CPI), until recently, has been more readily heard than seen or felt. This anomaly is seldom apparent at birth, and the first awareness of the defect occurs when the child develops the hypernasality characteristic of uncorrected cleft palate speech. The variety of factors producing this kind of speech defect can be examined by roentgenographic and nasopharyngoscopic methods (see Chapter 27).

cleft in the hard palate.A palpable notch in the posterior border of the hard palate is always indicative of the presence of a cleft

Normally, during deglutition and during phonation, except for the sounds of “m,” “n,” and “ng,” the soft palate elevates, making contact with the posterior and lateral walls of the pharynx. The complicated synergies that contribute to this multi-dimensional contraction serve to separate the nasopharynx from the oropharynx. If for any reason this velopharyngeal closure cannot be achieved, deglutition is compromised, and in phonation the air stream necessary to create speech is misdirected through the nose. Palatal insufficiency may be caused by the velum being too short and/or by a deficiency in the antero-posterior dimension of the hard palate.

References 1. Berkowitz S. Growth of the Face with Bilateral Cleft Lip from 1 Month to 8 Years of Age. Chicago: University of Illinois Graduate School; 1959. Thesis. 2. Pruzansky S. Description, classification, and analysis of unoperated clefts of the lip and palate. Am J Orthod. 1953; 39:590.

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S. Berkowitz 3. Pruzansky S. The growth of the premaxillary-vomerine complex in complete bilateral cleft lip and palate. Tandlaegebladet. 1971; 75:1157–1169. 4. Friede H. Histology of the premaxillary-vomerine suture in bilateral cleft case. Cleft Palate J. 1973; 10:14–22. 5. Friede H. Studies on Facial Morphology and Growth in Bilateral Cleft Lip and Palate. Göteborg, Sweden: University of Göteborg; 1977.

6. Fogh-Andersen P. Inheritance patterns for cleft lip and palate. In: Pruzansky S, ed. Congenital Anomalies of the Face and Associated Structures. Springfield, Ill: CC Thomas; 1961:123–133. 7. Fogh-Andersen P. Inheritance of Harelip and Cleft Palate. Copenhagen, Denmark: Nyt Nordisk Forlag, Arnold Busck; 1942.

6A

Clefts of the Lip and Alveolus and Clefts of the Uvulae and Soft Palate Samuel Berkowitz

6A.1

Clefts of the Lip and Alveolus (Figs. 6A.2–6A.4)

The alveolar portion is usually distorted outward in complete lip clefts. When the lip is united, the newly created lip force molds the alveolar section into proper alignment. A secondary alveolar bone graft is performed at the same age as in other cleft types (Fig. 6A.1).

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a

d

b

c

e

Fig. 6A.1 a–f. Cleft of the lip and alveolus. Facial photographs a before and b after surgery. c Four years later showing good lip/nose aesthetics. Palatal casts d before and e after surgery showing the molding of f

the cleft alveolar segment into alignment. f Ideal anterior and buccal occlusion

Chapter 6A

Clefts of the Lip and Alveolus and Clefts of the Uvulae

a

b

c

d

e

f

Fig. 6A.2. Case AS-30. Cleft of the lip and alveolus. Various lip revisions were performed

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a

b

c

d

e

Fig. 6A.3. Case AS-30. Cleft of the lip and alveolus

after orthodontics

Chapter 6A

Clefts of the Lip and Alveolus and Clefts of the Uvulae

Fig. 6A.4. Case AS-30. Lip adhesion treatment

and alveolar bone graft. Palatal growth and development was normal as seen by the occlusion

3-6

6-2

7-5

9-8

10-10

12-2

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6A.2

Clefts of the Uvulae and Soft Palate (Fig 6A.5) and Cleft of the Uvulae Alone (Fig 6A.6)

When the health of the child permits, soft tissue clefts can be sutured within the first 3 months forces as Latham and his mentor McNeil have suggested. There are, however, some cases when, because of an unfavorable facial growth pattern coupled with a retruded maxilla relative to the anterior cranial bases, orthopedic protraction forces will be beneficial in the mixed (transitional) and permanent dentition.

Fig. 6A.5. Soft palate

Fig. 6A.6. Uvulae

6B

Complete Unilateral Cleft of the Lip and Palate Samuel Berkowitz

As previously described [1], in complete unilateral and bilateral clefts of the lip and palate, after the lip is united, the overexpanded palatal segments move together, reducing the cleft width along its entire posterior length. Subtelny [2], using laminographs, has shown that newborns with complete clefts of the lip and palate have wider than normal pharyngeal widths, and the perpendicular plates of the sphenoids are distorted in their relationship. Aduss and Pruzansky [3] have demonstrated that, in complete unilateral cleft lip and palate, any one of three arch forms can result after the lip is repaired (Fig. 6B.1):

1. The alveolar segments can move into end-to-end contact, producing a symmetrical arch form. 2. The alveolar segments can overlap, producing what is erroneously known as a “collapsed” arch form. 3. The alveolar segments can move closer together but not make contact. This occurs because of an inhibiting factor of the inferior turbinate on the cleft side making contact with the distorted bulge of the nasal septum.

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a

b Fig. 6B.1. a CUCLP. Facial and palatal casts. b Complete unilat-

eral cleft lip and palate (CUCLP) before (A) and after (B) lip surgery. With the establishment of muscle continuity, the lesser segment moves medially while the premaxillary portion of the larger segment moves medio-inferiorly, both acting to reduce the cleft width. Any of the following segmental relationships can result: B No contact between segments. The inferior turbinate on the cleft side makes premature contact with the

bowed nasal septum. C The premaxillary portion of the larger segment overlaps the smaller segment. D The segments form a butt joint showing good approximation. Pruzansky and Aduss have shown that there is no correlation between the original cleft width and the resultant arch form. Wider clefts seemed to demonstrate less of a tendency toward collapse than did the narrower clefts [3]

Chapter 6B

In a series of 58 patients who had no presurgical orthopedics or primary bone grafting, Aduss and Pruzansky [3] found that approximately 43% had overlap of the alveolar processes (mistakenly called collapsed arch). Among these patients, crossbites of the canine and first deciduous molar were the most common finding at 5 years of age. There were no anterior crossbites. Other investigators have reported similar results [4, 5]. Berkowitz [6], in a serial study of 36 cases with complete unilateral clefts of the lip and palate in which the lip had been united between the ages of 3 and 5 months and the palatal cleft closed between 18 and 24 months using a von Langenbeck with modified vomer flap without neonatal maxillary orthopedics, showed that 5 of the 36 cases had a complete buccal crossbite which was corrected within 6 to 10 months with fixed palatal expanders. Cuspid crossbite was the most frequent occurrence and was due to angular palatal rotation as well as to ectopic eruption of the deciduous cuspids. The cleft and noncleft segments were in either a Class I or Class II occlusal relationship. In no instance were any of the segments in a Class III relationship. This confirms Berkowitz’s belief that the cleft palatal segment is not retropositioned within the skull relative to the mandible and that the maxillarymandibular relationship is similar to that seen in the noncleft population. Whether the maxilla and mandible are both posteriorly positioned within skull has not been determined, others [7, 8] have found this to be the case. Therefore, the palatal segments do not need to be brought forward by the use of neonatal protraction forces as Latham [9] and his mentor McNeil [10] have suggested. There are, however, some cases when, because of an unfavorable facial growth pattern coupled with a retruded maxilla relative to the anterior cranial bases, orthopedic protraction forces will be beneficial in the mixed (transitional) and permanent dentition. According to Aduss and Pruzansky [3], four factors govern arch form: 1. The size and shape of the alveolar process adjacent to the cleft. A bulbous and fully toothed alveolar process acts as an impediment to the collapse of the arch, whereas a thinly formed and dentally impoverished alveolar process leads to the overlapping of segments. 2. The size and shape of the inferior turbinate on the side of the cleft. A thick, rounded, well-modeled inferior turbinate can block excessive medial movement of the palatal segments. 3. The size and geometrical inclination of the nasal septum. A highly inclined septum with a contiguous bulbous turbinate will affect the movement of the palate and its final position.

Complete Unilateral Cleft of the Lip and Palate

4. The size and shape of the palatal shelves. Shelves of disproportionate size are more prone to overlap. One can certainly visualize that a long noncleft segment coupled with a short cleft segment will end up with the premaxillary portion overlapping the short cleft palate segment.

6B.1

Facial Characteristics

Aduss [11] in 1971 examined 50 males and 21 females with UCLP; their age range was between 4 and 14 years. He described craniofacial growth in the male cleft group as essentially equivalent to the female cleft group. He found that the gonial angle for the cleft patients was consistently larger than the noncleft group and the mandible appeared to be more retrognathic. He concluded that the craniofacial complex in the cleft sample tended to grow in a similar manner to that reported for the noncleft populations. The results of his study, based on a conservative method of surgery, negate the conclusions reached at the time regarding the deleterious effects of surgery on the growth of midface. Hayashi et al. [12] studied craniofacial growth in unilateral complete clefts using lateral cephalograms of 135 males and 120 females with an age range of 4 to 18 years. Control subjects included 120 noncleft males and 120 noncleft females of similar age to the cleft subjects. They concluded that the cleft group differed from the control group in several major respects: (1) Their over-all growth trend showed a more downward or vertical direction; (2) the cranial base angle was more flattened; (3) the maxilla was smaller and was located in a more posterior and upward position; (4) ramal height was shorter, the gonial angle was more obtuse, and mandible was generally retrognathic; (5) upper face height was smaller and lower face height was greater; (6) underdevelopment in both the maxilla and the mandible was more pronounced in cleft females than in cleft males. Smahel [13] in 1986, studied 30 boys with UCLP prior to palatoplasty using cephalometry. A comparison with 27 normal individuals matched in age showed that most basic deviations of the craniofacial configuration recorded in adults developed at an early age, often prior to palatoplasty, i.e., reduced height of the upper anterior face, maxillary dentoalveolar retroclination, displacement of the upper jaw backwards, widening of some components of the maxillary complex, and a shortening of the mandibular body and ramus. Only the length of the upper jaw was not reduced. The shortening of maxillary dimension occurred postoperatively at a more mature age.

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Later on 1992, Smahel [14] presented another study of craniofacial morphology in UCLP in 58 adult males. The results showed a shortening of maxillary depth, reduction of the upper face height, increased lower anterior facial height and mandibular changes resulting from growth deficiency that consisted of shortening of the body and ramus, obtuse gonial angle, steep mandibular plane, and retrognathia. Again in 1992 Smahel [14] studied growth and development of the face in UCLP during prepubertal and pubertal periods. He concluded that there were no definitive differences in the growth rate between the pre- and postpubertal periods. Therefore, the worsening of overjet during puberty could be due to the depletion of the compensation and adaptation after the previous orthodontic treatment rather than to the enhanced growth rate. In addition he found that, during the prepubertal period the lower jaw showed a very slight posterior rotation, while during puberty an anterior growth rotation was present. A marked retrusion of the maxilla developed already in the prepubertal period. During both periods there occurred an identical impairment of sagittal jaw relations and of the upper lip prominence, accompanied by a flattening of the facial profile and reduction of the nasolabial angle. In 1996, Smahel [15] reported a longitudinal study regarding postpubertal growth and development of the face in UCLP as compared to the pubertal period. The data showed that in boys facial growth persists after the age of 15 years and maxillary growth attains almost half the values recorded in the period of puberty, while mandibular growth attains almost the same values as during puberty. In girls the growth is almost terminated except for the lower jaw, where it is still significant though several times slighter than during puberty. Due to the gender differences in the amount of postpubertal growth, developmental changes in facial configuration do not occur in girls during this period, while in boys there is a further deterioration of maxillary protrusion, sagittal jaw relations, and flattening of the face. In 1988 Horswell [16] reported another long-term follow-up of skeletal growth of UCLP subjects ranging in age from 8 to 18 years. Serial cephalographs taken every 2 years were utilized for determination of six cephalometric dimensions: anterior cranial base, upper and lower facial heights, posterior nasomaxillary height, maxillary horizontal length, and mandibular length. These were compared to published cephalometric standards of a noncleft group. All dimensions except mandibular length were smaller in the UCLP group. The horizontal maxillary length appeared to be most affected in UCLP. Mandibular length was not affected in the cleft group.

6B1.1 The Oslo Study Because of the stable and long history of meticulous record keeping and protocols that characterizes the data acquisition of the Oslo team, the following studies on unilateral cleft lip and palate are presented to provide a unique perspective on treatment strategies and facial growth standards based on longitudinal data. The author does not follow the same surgical strategies as those of the Oslo team, but recognizes that the differences are not significant enough to interfere with obtaining a successful long-term outcome. Semb’s [17] 20-year serial cephalometric study taken from the Oslo Archives gathered during Bergland’s leadership involved 76 males and 81 females (157 individuals) who did not have neonatal maxillary orthopedics. All of the children in the study had lip closure in infancy using a modified Le Mesurier or, after 1969, a Millard procedure. During the same operation, the nasal floor was closed using a one-layer vomer flap. The remaining posterior palatal cleft was closed between 4 and 5 years of age using a von Langenbeck palatoplasty. Secondary alveolar bone grafts from the iliac crest were placed at between 8 and 11 years of age. By 1974 all palate repairs were completed by 18 months of age. Superior-based pharyngeal flap surgery for velopharyngeal insufficiency was performed in about 20% of the cases. Compared with normal males and females, the pooled sample with unilateral cleft lip and palate showed: (1) skeletal and soft tissue maxillary retrusion; (2) elongation of the anterior face (even though the upper face height was shorter); (3) a retrusive mandible; (4) reduction in posterior face height; and (5) a slight increase in the angle of the cranial base. The pattern of growth also was different from that of noncleft individuals. Between 5 and 18 years of age there was almost no increase in the length of the maxilla. There was a marked reduction in maxillary and mandibular prominence. Vertically, the excessive lower face angulations changed slightly.

6B1.2 Multicenter CUCLP Cephaloradiographic Study [18] Ross’s multicenter study involved data from 15 cleft palate centers around the world collected for the purpose of determining the effects of manipulative and surgical treatment on facial growth. A sample of 1,600 cephalometric radiographs of males with complete unilateral cleft lip and palate were traced, digitized, and analyzed in the Craniofacial Center of The Hospital for Sick Children. The seven series of studies con-

Chapter 6B

sidered virtually every aspect of treatment that might influence facial growth. Ross concluded that the type of surgical repair used does not make an appreciable difference to facial growth. It appears, however, that there are differences that can only be explained on the assumption that some surgeons induce less growth inhibition than others. Variation of the timing of hard and soft palate repair within the first decade does not influence facial growth in the anteroposterior or vertical dimension. Ross admits that very early soft palate repair was not well represented in this study, and there is some suspicion that there might be untoward results. Berkowitz’s [19] clinical findings suggest a different conclusion that, in most cases, early surgery (before 12 months) will have a negative effect on palatal growth in all three dimensions. It all depends on the size of the cleft defect relative to the area of the surrounding mucoperiosteum. (see Chap. 17) Ross’s study did not include palatal surgery from 6 to 12 months. This study also reported that the resulting face is flat in profile and decreased in depth, with a vertical deficiency in the midface and vertical excess in the lower face. The mandibles in these faces characteristically are slightly shorter in total length so that the chin is retruded. The occlusion is more of a molar and incisor mesio-occlusion in clefts with less overbite and overjet. The soft palate in this sample is appreciably more posterior. The mandibular plane angle is greater, possible due to the need for more interincisal space. Ross further stated that the bony pharynx was unaffected by treatment and that the variation in midface development can be attributed to maxillary length rather than to maxillary position. He also noted that the mandible is not directly affected by treatment. Facial growth is intrinsically compromised by an underlying deficit, and surgery acts to further interfere with growth of the midface by inhibiting forward translation. The best results appear to follow lip repair at 4–5 months with no repair of the alveolus. Early alveolar repair restricts its vertical growth and should be avoided in individuals with poor growth potential. This leads to deficient midfacial height and poor vertical height proportions, with more acute nasolabial angles. There is no evidence that periosteoplasty will cause similar results. Berkowitz’s [19] study conclusively shows that periosteoplasty inhibits midfacial development, especially that of the premaxilla (see Chap. 20) Ross further states that the maxilla in the UCLP is not more posteriorly positioned to any appreciable extent, but it is much shorter in length. The repaired lip affects the basal maxilla more than the alveolar process. Vertical development of the posterior maxil-

Complete Unilateral Cleft of the Lip and Palate

la is more deficient than the anterior part. The mandible is shorter with a steeper mandibular plane angle. Hard and soft palate surgical repair procedures provide the greatest potential for inhibiting the maxilla in length, forward translation, and posterior height. Kwon’s [20] retrospective longitudinal study of the skeleto-facial growth in unilateral cleft lip and palate documented and evaluated the proportional craniofacial growth horizontally and vertically in 14 UCLP patients of the ages 5–18 years by using modified Coben’s Basion Horizontal analysis. There were three populations included in this study: the Eastman cleft group (sample size 24) and the Miami cleft group (sample size 23) served as patient group and the Bolton templates (ages 5–18) served as controls. Samples were divided into 4 age periods according to the chronological ages, and then the growth pattern of each period were evaluated and compared. A total of 301 images of lateral cephalograms were examined and digitized. These characteristics of the skeletal facial growth of the UCLP are summarized as: (1) there is no difference of posterior cranial base over time; (2) maxilla is positioned posteriorly relative to Basion (BA) during the early ages and is getting retrusive due to the deficient growth with time; (3) Upper Anterior Facial Height (UAFH) is almost the same as the control; (4) Lower Posterior Facial Height (LPFH) is increased but is not as much as Lower Anterior Facial Height (LAFH); (5) Lower Anterior Facial Height (LAFH) is significantly increased; (6) Total Facial Height (TFH) is significantly increased; (7) mandible is positioned backward and downward due to the posterior position of the maxilla and the elongation of LPFH and LAFH; (8) skeletal profile is more convex and is getting straight and finally is flatter over time in the clefts than in the controls. Generally, the manifestation of the cleft characteristics of the Miami group is increased when compared to that of the Eastman cleft group. The skeletal growth leads to not only the maxillary retrusion but also to position the mandible down and back. Early orthopedic intervention followed by the fixed edgewise appliance and prolonged retention is recommended to try to correct the skeletal problems; camouflage by dental correction, and maintain to the treatment outcome with reasonable retainer.

6B1.3 Reflection on Ross’ Excellent Multicenter Study [21] In the Foreword of the multicenter study, Treatment Variables Affecting Facial Growth in Complete Unilateral Cleft Lip and Palate, Bruce Ross discussed the dif-

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ficulty of performing this type of study due to the variability in sample size, age, sex, precise cleft type, and ethnic origin. He then mentioned the problems associated with doing cephalometric measurements and suggested using one center to control measurement errors; this was an excellent solution. According to Ross [21], the study considered virtually every aspect of treatment that might influence facial growth. An attempt was made to control many variables that influence growth research, so that a clear picture of the effects of each procedure would be available. Two major assumptions about the study are necessary if any conclusion can be drawn from these studies. The first is that all groups of infants with complete unilateral cleft lip and palate have exactly the same facial morphology at birth in spite of enormous individual variation within the group. The second assumption is that one group of infants will respond on the average in exactly the same way as any other group to a particular treatment. The intent was to assemble relatively pure samples of individuals who had received the given management techniques used consistently on all subjects from a particular center. Berkowitz believes the study was a noble attempt by excellent clinicians/researchers to pool their sample cases to investigate treatment results. By necessity, it was limited to cephalometric records. By lumping all CUCLP cases together, regardless of the degree of palatal deformity at birth, much potential prognostic information for the treatment of individual cases is unavailable. Ross had no choice for discounting Slavkin’s [22] and Ross and Johnston’s [23] statements that palatal defects may be caused by either the failure of the separated palatal segments to fuse or, possibly, palatal osteogenic deficiency, a variable that needs to be considered in treatment planning. This statement on the embryo-pathogenesis of cleft palate explains why all clefts within a cleft type are not alike. It is not hard to reason that, as the extent of the cleft palatal defect varies, so will the resulting quantity of palatal surface area and the resulting quantity of postsurgical scar tissue. Because excessive scarring inhibits palatal growth and development, the palatal surface area at the time of closure needs to be considered in treatment planning. Berkowitz believes that the variability of palatal surface area within a particular cleft type weakens the value of Ross’s [21] conclusions, which are based on the second assumption that “one group of infants will respond on the average in exactly the same way as any other group to a particular treatment.” Berkowitz concludes that the next level of treatment evaluation studies designed to improve differential diagnosis requires the establishment of specific criteria based on quantitative and qualitative characteristics of the palatal defect when related to treatment outcome. (see Chap. 17)

6B.2

How the Palate Grows

As ready discussed in Chap. 4 on facial growth, bone growth involves the increase in size as well as remodeling. Serial palatal 3 dimensional growth studies by Berkowitz [19] has shown that growth and remodeling occurs over the entire palatal surface even at the medial border the palate at the cleft. (Figs. 6B.2, 6B.3)

6B.3

Treatment Sequence

6B3.1 Usual Treatment Sequence 1. Lip Adhesion: 3 months 2. Definitive Lip Surgery (Rotation Advancement): 10 months 3. Hard and Soft Palate Closure (von Langenbeck with vomer flap): 18–24 months (rarely 36 months). 4. Orthodontic Expansion (Quad Helix): 5–7 years. 5. Superior Based Pharyngeal Flap: 6–8 years if necessary. 6. Bone graft (iliac crest): 7–9 years. 7. Protraction Facial Mask (if necessary): 8 years or later. 8. Maxillary Surgical Advancement (Lefort I or Distraction Osteogenesis): varies. 9. Lip/Nose Revisions Techniques.

6B.4

Reports

In this section, treatment outcomes of selected cases are presented with photographs and dental casts. The casts started at birth and continued through adolescence; these records show the natural history of palatal and facial growth and development when conservative surgery was performed without the use of presurgical orthopedics. In some cases, the lip was united after the use of a Logan’s Bow (Fig. 6B.4), in others after lip adhesion at approximately 3 months of age. In some cases the cleft of the soft palate was united at the same time the hard palate was closed. Definitive lip surgery was performed at 6 months and hard palate closure using a modified von Langenbeck procedure with a vomer flap was performed between 12 and 24 months of age. Selected cases are presented in Figs. 6B.5 through 6B.25 to show various treatment solutions to complex problems.

Chapter 6B

Complete Unilateral Cleft of the Lip and Palate

a

a

b Fig. 6B.2 a, b. Superimposed computer generated images of

serial CUCLP casts superimposed on the rugae and registered on the vomer AP line. The alveolar ridge is the outer limits of the palate. Surgery: Lip adhesion at approximately 3 months, definitive lip surgery at approximately 6 months and hard and soft palate closure between 18 to 24 months using a von Langenbeck procedure with a vomer flap. No presurgical orthopedics. Results: These 4 illustrations show the result of molding and growth. The least growth occurs anteriorly. Most of the growth occurs posteriorly to accommodate the developing deciduous and permanent molars. The palatal mucoperiosteum covers increase palatal size and the palatal cleft, which greatly reduced in size

Fig. 6B.3. Case KK-55. Serial growth of the

palatal segments in CUCLP. Using computer-generated 3D images the surface areas mesial to the alveolar ridges were analyzed using an electromechanical digitizer. The same surgery stated in Fig 6B-2 were used. Results: This case is an example of 60 cases analyzed in the study; it shows: (1) Both palatal segments grow at the same rate, (2) the most rapid period (velocity) of growth occurs during the first 18 months. Comments: Because the most rapid period of growth occurs between 8 and 24 months when cells are most active, it is best to postpone palatal surgery until a later age in order to not inhibit growth

b Fig. 6B.4 a, b. Logan’s bow. Pressure is placed on the cheeks to

bring the lips together prior to surgery. The bow helps to reduce tension at the suture line

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a

b

c

d

e

f

Fig. 6B.5 a–v. Case: KC (ZZ-1) demonstrates good palatal and facial growth in CUCLP. A very small cleft space at 5 months of age allowed for easy closure without much scar formation. Surgical treatment: No presurgical orthopedics. Lip adhesion followed by Millard’s Rotation Advancement. Soft palatal closure at 2 months. Palatal cleft closure at 15 months using modified von Langenbeck procedure. Secondary alveolar cranial bone

graft at 6 years and 8 months. Photographs showing various treatment stages from birth to 17 years of age. a and b Newborn. c Lip adhesion at 4 months. d Lip at 2 years of age. Orthodontics during the deciduous dentition: e 2 years, showing anterior crossbite. f 2 years, 7 months: palatal view showing fixed buccal expander

Chapter 6B

Complete Unilateral Cleft of the Lip and Palate

g

h

i

j

k

l

m

Fig. 6B.5 a–v. (continued) g Anterior teeth were advanced and the cleft buccal segment expanded. h 5 years. Fixed palatal retainer. i, j, and k Fixed palatal retainer with lateral incisor pontic (tooth). l and m Facial photographs at 6 years

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n

o

p

q

r

s

u Fig. 6B.5 a–v. (continued) n and o 7 years, 3 months: lateral in-

cisor is erupting through cranial bone graft. Orthodontics in the adult dentition: o Lateral incisor is extracted due to poor root development. p and q conventional orthodontics. Surgery

t

v

to close the palatal fistula was unsuccessful. r, s, and t Facial photographs at 17 years. u, and v Intraoral photographs. Hawley orthodontic retainer with lateral incisor pontic

Chapter 6B

Complete Unilateral Cleft of the Lip and Palate

1-4-0

2-6-0

Fig. 6B.6. Case KC (ZZ-1). Serial casts from 0-1 to 0-5 shows medial movement and growth changes to the palatal segments. 0-5 The cleft space is extremely small with the palatal segments making contact anterior to the cleft space. 2-6-0 and 4-3

Mesioangular rotation of the lesser segment placed the deciduous cuspid in crossbite. 5-1 A fixed palatal expander rotated the segment outward, placing the teeth in ideal occlusion

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Fig. 6B.6. (continued) 6-1 Fixed retainer maintained the correction. Secondary alveolar bone graft was performed at 7 years, 3 months of age. 9-0 The maxillary anterior teeth were rotated for aesthetic reasons

Chapter 6B

Fig. 6B.6. (continued) 11-6 The left lateral incisor is now in place within the arch. As a result of poor root development, it had to be extracted. Conventional orthodontics was instituted and completed by 15-3. Maxillary fistula was surgically closed at 16-3, and the arch form maintained with a removable Hawley retainer with a lateral incisor pontic. 17-0. Final occlusion. Comment: Because most cleft palatal arches have some degree

Complete Unilateral Cleft of the Lip and Palate

of osteogenic deficiency, when all bicuspids are retained, it is usual for the second molars to be blocked out and be impossible to position within the arch. This then necessitates their removal with possible replacement by the still unerupted third molars. In some instances, a small palatal fistula may not pose a speech problem or be a source of nasal drainage

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Fig. 6B.7. Case KC (ZZ-1). Computer-generated drawings of se-

rial casts which are in the same scale. The soft palate was united at 2 months and the hard palate closed at 15 months. This series demonstrates a rapid reduction in palatal cleft size with molding action and palatal growth. A palatal “fistula” was ex-

posed when the cleft buccal segment was expanded to correct the crossbite. It was closed but reappeared when final orthopedic treatment moved the palatal segments slightly apart. The “fistula” did not penetrate into the nasal chamber. Therefore, it did not pose a speech or feeding problem

Chapter 6B

Fig. 6B.8. Case KC (ZZ-1). The palatal growth chart shows: (1)

rapid growth acceleration in the first year which continues only slightly decreased until 36 months; (2) the palatal growth rate did not diminish after palatal surgery at 15 months; palatal growth slowed between 60 and 84 months, and then steadily increased; between 60 and 120 months, the growth of the lesser

Complete Unilateral Cleft of the Lip and Palate

cleft segment increased more rapidly than the noncleft segment; and (5) the palatal growth rate accelerated after 136 months. Comment: Based on palatal growth acceleration rates and the developing occlusion, one can safely conclude that palatal surgery did not interfere with its growth and development

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a

b

Fig. 6B.9 a–c. Case KC (ZZ-1). Tooth eruption into a secondary

alveolar cranial bone graft performed at 7 years and 3 months of age. a The permanent lateral incisor is erupting into the graft.

a

c b Good root development, the lateral incisor is brought into the arch orthodontically. c Its root began to absorb and was

extracted, good alveolar bone in the cleft space

b

Fig. 6B.10. Case KC (ZZ-1). a Lateral cephalometric tracings and b superimposed polygons using Basion Horizontal Method (Coben). Both show an excellent facial growth pattern. At 18-0 the midface is slightly recessive but still very acceptable aesthetically

Chapter 6B

Complete Unilateral Cleft of the Lip and Palate

a

b

c

d

e

f

Fig. 6B.11 a–m. Case SP. Surgical and prosthetic treatment to replace a missing portion of a premaxillary segment and to close an oronasal opening (a transfer patient). Loss of blood supply to the right premaxillary area led to its exfoliation. Treatment plan: because the remaining blood supply to the left maxillary and central incisor was questionable and the teeth showed marked root absorption, the dentist (Alan Stoler) recommended their removal. The remaining teeth were to be crowned to support an anterior cast gold section to which a

removable prosthetic appliance would replace the missing incisor teeth and bumper the lip. a, b, and c Frontal and palatal view of an oronasal opening due to the loss of a portion of the right premaxillary segment. d Palatal view following soft tissue closure of the oronasal opening. e and f Anterior prosthetic appliance with splinted posterior teeth; anterior appliance with two holes and “o” rings to receive the two extensions on the anterior splint

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g

h

i

j

k

l

Fig. 6B.11 a–m. (continued) g Posterior teeth splints with the anterior removable prosthesis in place on a model. h and i The gold anterior section spans the inter cuspid space. j Palatal view

m

with the anterior prosthetic appliance in place. k, l, and m. Facial photographs showing good upper lip support with excellent dental aesthetics

Chapter 6B

a

c

Complete Unilateral Cleft of the Lip and Palate

b

d

e

f

g

h

i

Fig. 6B.12 a–k. Case JK (AF-64). Excellent facial and palatal

growth in CUCLP when the palatal segments did not make contact after the lip was united. The lateral incisor is in position in the alveolar cleft area. a–i Serial facial and intraoral photographs show changes to the lip and nose after lip adhesion and

definitive lip surgery using Millard’s Rotation Advancement procedure. Left facial asymmetry is apparent in the frontal photograph and is more noticeable in the intraoral photograph at completion of orthodontic treatment. The left side was kept in Class II occlusion

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cal films show bone closure of the alveolar cleft space with good lateral incisor alignment

j

k

Fig. 6B.13. Serial casts of Case JK. Newborn: The nasal septum

bows toward the cleft segment creating a very small cleft space. The great distance between alveolar segments is due to the upward tilt of the larger segment coupled with a small cleft segment. 0-6-0 After the lip is united, both palatal segments move toward the midline, narrowing the cleft space, more on the right

than the left side. However, the alveolar segments still do not meet due to the inferior turbinate on the lesser segment making premature contact with the septum preventing the lesser palatal segment from further medial movement. Note that the premaxillary portion of the larger segment has not moved medioposteriorly. 1-0-0, 1-6, 2-3, 3-2

Chapter 6B

Fig. 6B.13. (continued) The palatal segments are still apart. 5-3.

After removal of the inferior turbinate and with palatal closure, the tissue contracture created by the modified von Langenbeck procedure pulls the palatal segments together, placing the buc-

Complete Unilateral Cleft of the Lip and Palate

cal teeth in the cleft segment in crossbite. 6-7 The palatal segments have been expanded. 7-9 Without palatal arch retention the crossbite returned. The ectopically erupted left central incisor is in crossbite

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Fig. 6B.13. (continued) 8-6 Arch expansion mechanics were re-

instituted and the left central incisor advanced into proper overjet. 11-4 and 14-2 Final orthodontic treatment was instituted and completed at 14 years of age. The impacted left lateral incisor was brought into alignment through the secondary alveolar cranial bone graft. Comment: After secondary alveolar bone grafting, arch expansion in most cases is stable. However,

a Fig. 6B.14 a, b. Case JK (AF-64). a Panorex: The left lateral incisor is palatally and horizontally impacted. b After treatment, the lateral incisor is well-aligned within the arch. Note that the

in cases where new bone does not extend to the nasal aperture, we believe the buccal crossbite has a good chance of returning. The left side was in Class II occlusion, because it was not certain that the left lateral incisor could be properly aligned. If it was to be extracted, the cuspid would be positioned in the lateral incisor space

b

curvature to the root possibly occurred before it was fully formed and during orthodontic movement

Chapter 6B

Complete Unilateral Cleft of the Lip and Palate

a Fig. 6B.15. Case JK (AF-64). Frontal cephaloradiograph shows

that the nasal chamber on the cleft side is very narrow with a very flattened inferior conchae. The nasal septum is extremely bowed toward the cleft side. A lower cuspid to cuspid retainer is being worn

Fig. 6B.16 a, b. Case JK (AF-64). a Skeletal and soft tissue

profile changes shown by lateral cephalometrics. The anterior projection of the midface and mandible relative to the anterior cranial base decreases with time as the profile flattens. The decreasing ANB angle reflects this change. b Superimposed polygons using the Basion-Horizontal method. This series clearly shows that the flattening of the skeletal facial profile occurred around 8 years of age and was brought about by the growth at the anterior cranial base and the mandible, whose plane angle increased with time. There was almost no forward growth of the midface between 4-11 and 13-3 years with only a small postpubertal growth increment between 13-3 and 15-0 years of age

b

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a

b

c

d

e

f

Fig. 6B.17 a–s. Case JD (AE 23). Complete unilateral cleft lip and palate. Excellent palatal and facial growth. A relatively large cleft space necessitated postponement of palatal closure until 20 months. Early secondary alveolar bone graft. Surgical history: Lip adhesion at 3 months followed by Rotation Advancement definitive lip repair at 6 months. Modified von Lan-

genbeck palatal cleft closure at 20 months. Secondary alveolar cranial bone grafts at 6 years. a Before and b after lip repair. c 2 years, 5 months. Anterior and buccal crossbite. e and f 3 years, 4 months. Anterior and buccal crossbite correction with fixed palatal expander

Chapter 6B

Complete Unilateral Cleft of the Lip and Palate

g

h

i

j

k

l

Fig. 6B.17 a–s. (continued) g and h 4 years, 6 months. After expansion, a fixed palatal retainer. i and j 9 years. Central incisor aligned in the mixed dentition. k and l Orthodontic appli-

ance with a false lateral incisor tooth with band attached to the orthodontic arch wire

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m

n

o

p

q

r

s

Fig. 6B.17 a–s. (continued) m–r Facial and intraoral photographs at 15 years of age – on completion of orthodontic treatment. Ideal dental occlusion. s Maxillary retainer with an attached lateral incisor pontic tooth

Chapter 6B

Fig. 6B.18. Serial casts of Case JD. 0-1 At birth. 0-13, 1-4, and

1-7 With the institution of compressive lip muscle forces by uniting the lip, the lesser cleft segment moved medially to make

Complete Unilateral Cleft of the Lip and Palate

contact with the vomer. The geometric changes to both segments brought the alveolar segments in good approximation. 1-10, 2-5, 2-11, and 3-4

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Fig. 6B.18. (continued) However, after palatal cleft closure at 20 months, the lesser segment moved further medially placing the left cleft segment in crossbite. Due to ectopic eruption, the left central incisor was in crossbite. After palatal expansion

and advancement of the left central incisor, excellent buccal occlusion was established. 7-1, 7-9, 9-2, and 9-11. Fixed palatal retainer is worn to maintain the arch forum

Chapter 6B

Fig. 6B.18. (continued) 10-6, 11-0, and 11-9. Palatal form retained with palatal appliance. The upper central incisors were rotated for aesthetic purposes. The left malformed lateral incisor was left in place until orthodontic treatment was instituted at 12 years of age. 15-4 Orthodontic treatment completed.

Complete Unilateral Cleft of the Lip and Palate

Note the slight flaring of the upper incisors and upper left cuspid, which was due to slight anterior maxillary bone deficiency. This is not an uncommon finding in complete unilateral clefts of the lip and palate.

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a

b Fig. 6B.19. a Skeletal and soft tissue changes in Case JD. b Superimposed polygons using Basion Horizontal method

(Coben). Both of these analyses show excellent facial changes. The midfacial protrusion actually reduced between 7-1 and 17-4. Comments: One of the main controlling factors in the treatment of children with clefts that involve the anterior bony segment is the amount of osteogenic deficiency in the area. In many noncleft children, some advancement of the anterior teeth is essential; however, advancing the anterior teeth in the child with a cleft results in flared incisor teeth because the bone deficiency prevents the roots from being brought forward, even with anterior root torque using rectangular arch wires

Chapter 6B

Complete Unilateral Cleft of the Lip and Palate

a

b

d

e

f

g

Fig. 6B.20 a–n. Case AB (EE-49). UCLP illustrating use of pro-

traction maxillary orthopedics to correct midfacial retrusiveness secondary to growth-inhibiting scar tissue and/or maxillary osteogenic deficiency. Surgical history: Lip closure at 6 months. Hard and soft palate cleft closure at 16 months using an Island flap push-back. Secondary alveolar cranial bone graft at 10 years of age. a 2 years 11 months of age. Anterior and bilateral buccal crossbite could not be corrected in the deciduous or

c

h

mixed dentition. b, c, d Orthodontic-orthopedic forces to correct an anterior crossbite were initiated at 12 years of age using a Delaire-style protraction facial mask. e, f Ideal Class I (neutrocclusion) with an ideal overjet and overbite. Palatal view shows thick transpalatal scar tissue caused by the Island flap. g, h Periapical films after secondary alveolar cranial bone graft. No left lateral incisor is present, but good cleft space closure is evident

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i

l

n

j

k

m

Fig. 6B.20 a–n. (continued) i, j, k Facial and occlusal photographs before and after orthodontic treatment. l Upper retainer with pontic left lateral incisor. m Shows fixed bridge with false tooth and n cast palatal bar used to maintain the upper palatal form for relapsing in a cross bite occlusion

Chapter 6B

Fig. 6B.21. Serial casts of Case AB. 3-4-0 After Island flap hard and soft palate closure at 16 months of age resulting in bilateral buccal and anterior crossbites. 11-8-12 Occlusion just prior to orthodontic treatment. 13-11-1 After protraction mechanics using a Delaire style facial mask. 15-4-2 Occlusion after ortho-

Complete Unilateral Cleft of the Lip and Palate

dontics. Comments: Because maxillary deficiency is almost always present “A” point (subnasal) in the premaxillary area needs to be brought forward by using labile root torque on a rectangular arch

Fig. 6B.22 a, b. Case AB. a Ce-

phalometric tracings at 14-11 and 16-2. b Superimposed polygons using Basion Horizontal method. A slight change in midfacial protrusion is noted after protraction forces were used to correct the midfacial retrusion and anterior crossbite. In this case the changes in the maxillary incisor axial inclination aided anterior crossbite correction more than maxillary protraction a

b

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tient with CUCLP. Lip adhesion at 3 months. Rotation advancement at 6 months. Palatal closure at 22 months using a von Langenbeck and vomer flap. Excellent occlusion and a flat face profile resulted

Chapter 6B

Fig. 6B.24. Case AL 64 Complete unilateral cleft lip and palate.

Serial Casts: 0-0-23 to 2-0-0: Lip adhesion brings the overexpanded palatal segments together. The premaxillary portion of

Complete Unilateral Cleft of the Lip and Palate

the larger noncleft segments palatally positioned placing the teeth into an anterior cross-bite. The palatal cleft was closed at 1-11 with von Langenbeck plus vomer flap

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Fig. 6B.24. (continued) 8-9-13 to 15-4-7: The maxillary anterior

teeth were advanced into a proper overjet and overbite. Due to arch crowding the first bicuspids were extracted and spaces closed. The alveolar bone graft at approximately 8 years permit-

ted the impacted lateral incisors to erupt into place. Note: the right lateral incisor crown is malformal but the root size and shape is normal. The crown will eventually be capped

Chapter 6B

a

b Fig. 6B.25 a, b. Case DM-AL 64. Very good facial growth pat-

tern. The flattening of facial profile was dependent on good growth of all parts of the facial skeleton. The extraction of all the maxillary and mandibular first bicuspids was necessary to retract the incisors and uncrowd the dentition

Complete Unilateral Cleft of the Lip and Palate

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References 1. Pruzansky S. Factors determining arch form in clefts of the lip and palate. Am J Orthod 1955; 41:827. 2. Subtelny JD.Width of the nasopharynx and related anatomic structures in normal and unoperated cleft palate children. Am J Orthod 1955; 41:889–909. 3. Aduss H, Pruzansky S. The nasal cavity in complete unilateral cleft lip and palate. Arch Otolaryng 1967; 85:53–61. 4. Bergland O. Treatment of cleft palate malocclusion in the mixed and permanent dentition. Fortschr Kiefer Gesichtschir 1973; 16/17:571–574. 5. Bergland O, Sidhu SS. Occlusal changes from the deciduous to the early mixed dentition in unilateral complete clefts. Cleft Palate J 1974; 11:317–326. 6. Berkowitz S. Timing cleft palate closure-age should not be the sole determinant. J Craniofac Genet and Dev Biol 1985; 1(Suppl):69–83. 7. Semb G. A study of facial growth in patients with unilateral cleft lip and palate treated by the Oslo CLP team. Cleft Palate Craniofac J 1991; 28:1–47. 8. Ross RB. Treatment variables affecting facial growth in complete unilateral cleft lip and palate. Cleft Palate J 1987; 24:5–77 9. Latham RA. Orthopaedic advancement of the cleft maxillary segment: a preliminary report. Cleft Palate J 1980; 17:227. 10.McNeil CK. Orthodontic procedures in the treatment of congenital cleft palate. Dent Rec 1950; 70:126–132. 11. Aduss H. Craniofacial growth in complete unilateral cleft lip and palate. Angle Orthodontist 1971; 41(3):202–213 12. Hayashi I, Sakuda M, Takimoto K, Miyazaki T. Craniofacial growth in complete unilateral cleft lip and palate: a roentgeno-cephalometric study. Cleft Palate J 1976; 13:215– 237

13. Smahel Z, Mullerova Z. Craniofacial morphology in unilateral cleft lip and palate prior to palatoplasty. Cleft Palate J 1986; 23(3):225–232. 14. Smahel Z, Machovav P, Mullerova Z, Skvarilova B. Growth and development of the face in unilateral cleft lip and palate during prepubertal and pubertal periods. Acta Chirurgiae Plasticae 1992; 34(3):163–177. 15. Smahel Z, Mullerova Z. Postpubertal growth and development of the face in unilateral cleft lip and palate as compared to the pubertal period: a longitudinal study. J Craniofac Genet Dev Biol 1996; 16(3):182–192. 16. Hoswell BB, Levant BA. Craniofacial growth in unilateral cleft lip and palate: skeletal growth from 8 to 18 years. Cleft Palate J 1988; 25(2):114–121. 17. Semb G. A study of facial growth in patients with unilateral cleft lip and palate treated by the Oslo CLP team: Cleft Palate Craniofac J 1991; 28(1):1–21. 18. Ross RB. Treatment variables affecting facial growth in complete unilateral cleft lip and palate. Part 7: an overview of treatment and facial growth. Cleft Palate J 1987; 24:71–77. 19. Berkowitz S, Duncan R, Evans C, Friede F, Kuijpers-Jagtman AM, Prahl-Anderson B, Rosenstein S. Timing of cleft palate closure should be based on the ratio of the area of the cleft to that of the palatal segments and not on the age alone. Plast Reconstr Surg (in press). 20. Kwon S. A mixed longitudinal study of skeleto-facial growth in UCLP samples. Rochester NY: Senior Research Eastman Dental Center; 1998. 21. Ross RB. Treatment variables affecting facial growth in complete unilateral cleft lip and palate. Part 1: treatment affecting growth. Cleft Palate J 1987; 28:5–23.

6C

Complete Bilateral Cleft Lip and Palate Samuel Berkowitz

The surgeon is confronted with the following options when faced with a protruding premaxilla at birth: 1. Uniting the lip over the protruding premaxilla and considering later surgical setback and other surgical options. 2. External elastics attached to a head bonnet or elastic tape to the checks to ventroflex the premaxilla. 3. Early surgical premaxillary setback. 4. Complete removal (excision of the premaxilla). 5. Early mechanical retrusion prior to lip surgery or presurgical orthopedic treatment (PSOT) without retraction and with or without primary bone grafting or periosteoplasty. 6. Lip adhesion followed by definitive lip surgery at a later age.

6C.1

Premaxillary Protrusion: Real or Apparent. Is the Palate Deficient in Bone?

A bilateral cleft of the lip and palate can be complete or incomplete on one or both sides (see Chap. 6). Any number of variations can exist. In both incomplete

and complete bilateral clefts of the lip and alveolus, the size and shape of the premaxilla is dependent on the number of tooth buds and their distribution, making it symmetrical or asymmetrical (Fig. 6C.1). Because clefts of the lip/alveolus and the hard and soft palate come from different embryological sources, the cleft may involve the lip and alveolus with or without involving the hard and soft palate. Based on the observations of Veau [1, 2] and Browne [3] and the later work of Friede and Pruzansky [4], Bergland and Borchgrevink [5], Harvold [6], Berkowitz [7], Friede [8, 9], Atherton [10, 11], and Handelman and Pruzansky [12] the cause of premaxillary protrusion is the result of tension and the resulting bony overgrowth produced at the premaxillary vomerine suture (PVS) by displacement of that bone by the aberrant muscular forces of the detached outer musculature combined with the pushing force of the tongue fitting within the cleft (Fig. 6C.2). These investigators, using cephalometric data, concluded that the premaxilla is postured forward in the facial profile at birth (Fig. 6C.3). Bergland and Borchgrevink [5] reported that, in complete bilateral clefts of the lip and alveolus with

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a

b

c

d

Fig. 6C.1. a Small premaxilla: three deciduous incisors with one unerupted permanent central incisor. b Large premaxilla:

four deciduous incisors with two permanent unerupted incisors. c Occlusal radiographs of premaxillae showing variations

in the number of anterior deciduous teeth and permanent tooth buds. d Occlusal radiographs of premaxillae showing variations in the number of anterior deciduous teeth and permanent tooth buds 䊳

Fig. 6C.2. a Line drawing of a complete bilateral cleft lip and

palate with an arrow pointing to the premaxillary vomerine suture (PVS) b A small protruding premaxilla IBCLP extends forward of the facial profile and lateral palatal segments. c Variations in bilateral cleft lip and palate. The size of the premaxilla varies with the number of teeth it contains. Classification is dependent on the completeness of clefting of the lip and alveolus and whether there is a cleft of the hard and soft palate. Yet one or both sides of the hard palate may or may not be attached to the vomer. If it is attached to the vomer, it is classified as being incomplete. Even in complete clefts of the lip and alveolus the extent of premaxillary protrusion will vary. A Incomplete bilateral cleft lip and palate. Complete cleft lip and palate – left side.

Incomplete cleft lip and palate – right side. B Complete bilateral cleft lip and palate. Complete cleft palate – both sides. C Incomplete bilateral cleft lip and palate. Incomplete palatal clefts – both sides. D Complete bilateral cleft lip and palate. Incomplete right and complete left palate. E Incomplete bilateral cleft lip and palate. Incomplete left palate and complete right palate. F Complete bilateral cleft of the lip and palate. Incomplete right and left palatal segments. G Complete bilateral cleft of lip and palate. Incomplete left palate and complete right palatal segment. H Complete bilateral cleft lip and palate. Incomplete left palate and complete right palate. I Incomplete bilateral cleft lip and alveolus. Normal palate

Chapter 6C

a

b Fig. 6C.2 a, b.

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Fig. 6C.3. Two-stage lip closure in a CBCLP. Ten months after lip closure the angle of facial convexity changed from 108° to 142° as a result of the ventroflexion of the premaxilla at the pre-

intact palates, the premaxilla was protrusive but palatal size was well within normal limits. In these cases, the septum was detached from the normally developed palates, and the protrusion of the premaxilla was interpreted as representing a premature release of the normal growth potential of the septum. The premaxilla apparently reached its geometric position within the skull at an earlier time prior to birth, yet the palatal segments followed a normal growth rate. Berkowitz’s clinical records support the findings of Coup and Subtelny [13], who reported marked palatal hypoplasia in bilateral clefts of the lip and palate. Berkowitz reports in this book that palatal growth rates are highly variable according to the amount of scarring created when closing the cleft space.

maxillary vomerine suture (PVS) coupled with some additional mandibular growth. A two-stage lip closure is rarely necessary. (courtesy of S Pruzansky)

6C.2

The Premaxillary-Vomerine Suture

Pruzansky [14, 15] and Friede and Morgan [16] used metal implants on either side of the premaxillaryvomerine junction to demonstrate cephalometrically that this suture was a major site of bony overgrowth (Fig. 6C.4). Earlier, Berkowitz [7] and later Pruzansky [15], Friede and Morgan [16], Pruzansky and Friede [17], Friede [18], Vargervik [19], and Berkowitz [20] suggested that the overgrowth was probably a secondary reaction to the lack of restraint from the cleft orbicularis oris muscle. They showed that midfacial growth continued for 1–3 years even after the lip was united but at a slower rate. Berkowitz’s [7] serial cephalometric tracings and digital cast study demonstrated that the midface continued to protrude for 2–3 years after the lip was united, then its forward growth slowed markedly (Fig. 6C.5). Not surprisingly, in some instances, the facial convexity did not change due to the continued forward growth of the maxilla and premaxilla but was due to more vertical rather

Chapter 6C

Fig. 6C.4. To test growth at the premaxillar vomerine suture

(PVS) in complete bilateral cleft of the lip and palate, two pairs of metal pellets were placed on either side of the PVS at 6 months of age. At 3 years, 5 months of age, the distance between the anterior and posterior sets of pellets had increased with the growth at PVS. Note that there was no change in distance within each set of metal pellets (courtesy of S Pruzansky)

than forward growth of the mandible, maintaining the facial convexity (Figs. 6C.6, 6C.7). Pruzansky [14, 15], Friede [18], and Atherton [10, 11] described the premaxillary vomerine suture as resembling other facial sutures. Friede and Morgan [16] confirmed the presence of small islands of cartilage in

a

b

Fig. 6C.5 a–f. A method used to show serial changes in facial

growth and development in CBCLP using Sella for registration while superimposing on the anterior cranial base. Facial angles and landmarks (upper left): Nasion (N), Pogonion (Po), Gonion (Go), Sella (S), Alpha (a) most anterior point on the premaxilla, Menton (Me), constructed Frankfort horizontal (FHc), Anterior point of the lateral palatal processes (M), Pterygomaxillary fissure (Ptm). Facial polygon (upper middle) drawn connecting

Complete Bilateral Cleft Lip and Palate

the suture; these were secondary occurrences resulting from mechanical stresses and not part of a force system causing growth. Burston [21, 22] and Latham [23, 24] following Scott’s [25, 26] “Nasal Septum Growth” thesis, believe that the displacement is not real but only apparent. Burston thought that the lateral segments of the maxilla were retroplaced and considered the premaxilla to be in normal position. Latham suggested that a contributing factor in producing the projecting premaxilla was the shortening of the septomaxillary ligament which drew it forward. Pruzansky and Friede’s [17] roentgencephalometric data confirmed the existence of a true, rather than a relative, premaxillary protrusion. Metallic implants were inserted on either side of the PVS at the time of initial surgery and were followed up roentgencephalometrically. Although continuous growth was recorded in the PVS, there was a postsurgical decrease in the premaxillary protrusion. On the basis of both the histology and cephalometrics, Friede [18] concluded that traumatic surgery involving the PVS would be likely to contribute to the impaired midfacial growth. This has been verified by Berkowitz’s more recent follow-up studies of the effects of mechanical premaxillary retraction on profile development. He has observed similar midfacial problems of impaired growth (see Chap. 20). Berkowitz speculated that severe pressure at the PVS would cause a hemorrhage followed by fibrosis and synostosis with cellular destruction, both acting to inhibit sutural growth. In contrast, a united lip

c

landmarks S-N-a-Po-Me-Go-S. Landmark points (upper right) projected to a constructed Frankfort horizontal line which is drawn 6° from the anterior cranial base (SN) at S. b An example of excellent facial growth. The cultural standard for a good aesthetic Caucasian face is a “flat” face, having an angle of facial convexity of approximately 180°. Most newborn noncleft faces have a relatively acute facial profile associated with relative retrognathia which usually flattens with growth

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d Fig. 6C.5 a–f. (continued) d Serial lateral cephalometric tracings showing changes in the angle of facial convexity (NaPo) from 113° to 154° in 8 11/42 years.)

Fig. 6C.5 a–f. (continued) e Facial polygon of the case shown in Fig. 6C.5d. Each polygon showing profile changes is superimposed on SN and registered at Sella. The midfacial protrusion at (a) had not increased after 2 years, whereas both the anterior cranial base (N) and mandible had increased in size. The mandible grew forward and downward, flattening the facial profile. The timing of these growth changes is variable

e

across the protruding premaxilla exerts a more tolerant retrusive force within the PVS, acting well within its physiologic threshold level for slowing down bone growth but not totally inhibiting it. Based on conclusions drawn from his clinical findings and those of Pruzansky and Friede’s [17] research, Berkowitz rejects Latham’s [23, 24] “force of the cartilaginous septum via the septo-premaxillary ligament” as the cause of premaxillary protrusion. Enlow’s [27] description of the nasomaxillary complex’s growth is worth repeating:

Chapter 6C Fig. 6C.5 a–f. (continued) f Projection of landmark

points to the constructed Frankfort horizontal line drawn 6° from SN at S. This growth projection system also shows that the midfacial protrusion did not increase after 2 years, whereas the forward projection of the mandibular body increased markedly until 8 11/42 years of age. These are the main factors leading to the flattening of the facial profile. Good facial growth changes can occur early or late (from [70])

Complete Bilateral Cleft Lip and Palate

with a Class III malocclusion (he did not want to blame the suggestions).

6C.3

Semb [28] and Ross [29] established that, in the cleft population, both the maxilla and mandible – not solely the maxilla – are retropositioned within the face. If McNeil’s [30] belief that the bilateral cleft palatal segments are left behind in their growth was accurate, a greater proportion of the cases must show a Class III malocclusion of one or both sides.As previously mentioned, Berkowitz’s [31] mixed cross-sectional study of the occlusion in CBCLP determined that the maxillary complex was not positioned posteriorly relative to the mandible. Also, a buccal crossbite is not a predictable outcome, as McNeil had suggested. Semb [28] and Ross [29] concluded that, although the midface and mandible are positioned posteriorly within the face, the maxilla is not retropositioned relative to the mandible and that McNeil’s hypothesis that the maxilla in complete clefts of the lip and palate is retruded and needs to be brought forward was in error.

6C.4

f

The nasomaxillary complex is in contact with the floor of the cranium. The whole maxillary region in total is displaced downward and forward away from the cranium by the expansive growth of the soft tissues in the midfacial region. This then triggers new bone growth at the various sutural contact surfaces between the nasomaxillary composite and the cranial floor. Displacement thus proceeds downward and forward as growth by bone deposition simultaneously takes place in an opposite upward and backward direction. McNeil [30] mistakenly had stated that the detached palatal segments from the nasal septum are not only reduced in mass but also are not brought forward with the developing nasal septum. This failure of the palatal segments to move forward with growth would lead to a retrusive midface

Facial Growth Studies Show That Midfacial Retrusion Is Not Predictable

Long-Term Facial Growth Findings Show Class III Outcomes Are Not Predictable

Semb25 conducted a serial lateral and frontal cephalometric study of 90 cases from the Oslo archives with bilateral cleft lip and palate. Since 1962, the treatment procedure has involved uniting the lip and closing the hard palate cleft space in two stages. No presurgical orthodontics were utilized because the surgeon and Bergland, an orthodontist and director of the program, believed that any bilateral cleft lip can be closed without presurgical palatal manipulation. In the period spanning 1950 to 1960, a von Langenbeck procedure was performed to close the hard palate cleft between 3 and 4 years of age; after 1960, the timing of the closure was reduced to 18 months of age. Secondary alveolar bone grafting using cancellous iliac crest bone was performed prior to the eruption of the permanent canine teeth. Twenty-five percent of the cases needed superiorbased pharyngeal flaps, which were performed before the child started school. No orthodontics were utilized in the deciduous dentition. Protraction headgear was used in the mixed dentition in one third of the cases. Fixed retention was necessary in all cases. Semb’s study showed that: (1) the maxilla progressively receded over time; (2) the mandible was retrusive

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a

b

with a steep mandibular plane with an increased gonial angle; (3) anterior lower face height was elongated and posterior facial height reduced; (4) the facial growth pattern was notably different from the normal Bolton standards: (a) male and female facial growth patterns were similar except that the males’ linear dimensions were larger; (b) the prominent premaxilla

Fig. 6C.6 a, b. An example of “poor” profile growth changes. This evaluation is made when the acute facial profile seen at birth remains the same or worsens with time. a Serial cephalometric tracings showing poor facial growth leading to premaxillary excision. The acute angle of facial convexity remained the same after 2 years. This treatment plan should be abandoned at any age even with severe midfacial protrusion. In similar growing faces, some clinicians believe premaxillary surgical setback is preferable for psychosocial reasons prior to starting elementary school. b Superimposed polygons of case shown in a show a mandible that is growing vertically with very few horizontal growth increments. The premaxilla continued to grow forward although there was no forward growth between 3-0-14 and 4-2-0. Note the placement of the lower lip lingual to the premaxilla. The premaxilla was excised at 4-9. This case came from Pruzansky’s records (from [70])

would gradually realign in the preschool years; and (c) surgical premaxillary setback was never required. Berkowitz’s unpublished serial cast cephalometric data support these statements (unpublished data). Vargervik’s [19] cross-sectional study of 51 males with BCLP treated with a variety of primary procedures (excluding premaxillary setback) showed pro-

Chapter 6C

Complete Bilateral Cleft Lip and Palate

Fig. 6C.7. The first 2 years of maxillary and mandibular tracings of the cases with good (see Fig. 6C.5) and bad (see Fig 6C.6) facial growth are compared to show the reasons for these evaluations. CP-72: Good facial growth. In this case, the degree of premaxillary protrusion relative to the lateral palatal segments (the anterior cleft space) was markedly reduced with growth. Premaxillary protrusion relative to the anterior cranial base was reduced as well. CP-139: Poor facial growth. The degree of premaxillary protrusion relative to the lateral palatal segments

remained the same, while the premaxillary protrusion relative to the anterior cranial base increased. (Courtesy of S Pruzansky). Comments: Although mandibular growth in the two cases was similar in degree, the superimposed polygons show that the vertical direction of growth of the “bad” grower’s mandible and not its size was the determining factor for the changes in the angle of facial convexity (NaPo). Tension at PVS created by the lower lip positioned lingual to the premaxilla increased premaxillary growth

file values similar to those reported by Hellquist et al. [32], Dahl [33], Smahel [34], Semb [28], and Friede and Johanson [35]. The Oslo team’s average for maxillary prominence and lower face height were slightly more favorable. Narula and Ross [36], reporting crosssectional data on thirty 6-year-old subjects and mixed longitudinal data on 34 subjects with BCLP treated conventionally without surgical setback and vomer flap, concluded the maxillary length reached normal values at 16 years of age. In the Swedish sample followed longitudinally by Hellquist et al. [32], similar facial convexity was also noted, although both the maxilla and mandible were reported to be slightly more prominent. The patients analyzed by Hellquist et al. [30] had a two-stage lip closure, pushback palatoplasty, and, at an average age of 6, a delayed periosteoplasty.

Friede and Johanson [35] reported facial growth in 13 Swedish children with bilateral clefts of the lip and palate (BCLP), five at age 7, and eight at age 10 years. The patients, who had had lip adhesion and vomer flap (without premaxillary setback) and velar closure with push back, also exhibited facial convexity similar to the Oslo sample. Friede and Pruzansky’s [4, 5] cephalometric report of 27 North American children in three treatment groups who were followed to 17 years of age do, however, show some differences in comparison with the Oslo sample. Six subjects treated by early premaxillary setback and seven treated by late setback (3–8 years of age) had profile values similar to those reported by the Oslo group. However, 14 subjects with no premaxillary setback had average values significantly more convex than those reported for the Oslo and other samples. None of the North American sub-

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jects had had vomer flaps, and it is implied that a more convex facial profile will be obtained if vomerplasty is excluded from primary surgery. Also, the negative growth affect of the surgical premaxillary setback may become evident at a later age.

6C.5

The Vomer Flap: Good or Bad? Are all Vomer Flaps the Same?

Semb’s [28] report on the longitudinal data of the Oslo group is critical of those who condemn the vomer flap. She states that the possible growth-retarding effect of a vomer flap has been discussed by several authors [4, 16, 35, 37, 39, 40–44]. Friede and Pruzansky [4] observed more favorable growth in patients treated without a vomer flap; however, this is not a uniform finding in the comparative studies. Some clinical centers not using a vomer flap have shown results similar to those where a vomer flap has been utilized. The extent to which the observation of a growth-retarding effect of a vomer flap can be generalized remains in some doubt, and may reflect other variations in sample composition or surgery. The effects of a vomer flap on facial growth have also been considered by the Oslo CLP team [43] which reported the flap to be clinically insignificant. Only one patient in their sample of 90 cases exhibited any degree of maxillary retrusion where surgical maxillary advancement was judged necessary. In the opinion of the Oslo team, a vomer flap provides the particular advantages of early separation of the nasal and oral cavities without artificial obturators, a low prevalence of symptomatic fistulae, an acceptable arch form, and a good foundation for mixed dentition alveolar bone grafting [46]. Berkowitz’s finding of serial complete bilateral cleft lip show results similar to those of the Oslo group. A modified vomer flap was used in conjunction with a von Langenbeck procedure. He believes that the negative effect of a vomer flap on midfacial growth and arch form, as described by Prysdo et al. [47] has not been conclusively proven. Patients who have needed LeFort I advancement of only the lateral palatal segments have had very large anterior cleft spaces in the permanent dentition even after the posterior hard palate had been surgically closed at 18–24 months of age with a vomer flap. The premaxillae in these cases were in good overbite-overjet relationships prior to moving the palatal segments into a Class II relationship to close the missing lateral incisor(s) space. Other times the lateral incisor spaces are left open.

Fig. 6C.8. Various surgical techniques used to unite the lip in BCLP. Experience has shown that the best results are obtained when the prolabium is used to construct the entire midportion of the lip. (from [71])

6C.5.1 External Elastics Attached to a Head Bonnet or Elastic Tape Strapped to the Cheeks (Fig. 6C.9) These force delivery systems will reduce premaxillary protrusion prior to lip surgery, and only need to be utilized for approximately 1 or 2 weeks. Elastic forces exert the same backward pressure against the protruding premaxilla as a lip adhesion. There are no valid reasons to object to the use of external facial elastic traction with arm restrains to prevent its removal forces for 1–2 weeks prior to lip surgery.

Chapter 6C

a

Complete Bilateral Cleft Lip and Palate

b

Fig. 6C.9 a–c. A head bonnet with an elastic strap (external

facial traction) placed against premaxilla is an efficient and painless procedure to ventroflex the premaxilla prior to lip surgery. a At birth. b With head bonnet in place. c After lip repair.

6C.5.2 Uniting the Lip (Figs. 6C.8–6C.10) In all complete clefts of the lip and palate at birth, the wide dislocation of the lateral palatal segments coupled with the protruding premaxilla can be gradually overcome by following a treatment protocol that allows the palatal segments to move into proper orientation by the application of the physiological forces of a united lip without the need for presurgical orthopedic treatment. Lip adhesion is followed by definitive lip surgery and observation of facial and palatal changes (Fig. 6C.8). If necessary, later surgical premaxillary setback, or surgically moving the lateral palatal segments forward to close a very large persistent anterior cleft space, can be considered. Clinicians who favor this procedure believe the degree of midfacial protrusion will decrease with facial growth under the influence of the midfacial growthrestraining forces of the united lip [4, 7, 13, 14, 19, 48–51]. Findings by Bishara and Olin [50] and Aduss et al. [51] support the conclusions drawn from earlier facial growth studies by Berkowitz [7], Friede and Pruzansky [4], Handelman and Pruzansky [12], and Vargervik [19] that the protruding premaxilla tends to be molded back by lip pressure and can sometimes be aligned within the lateral palatal segments without resorting to neonatal maxillary orthopedics. If not, then the premaxilla in most cases can be aligned within the arch in the deciduous dentition using a fixed orthodontic quad helix appliance. The use of lip adhesion within the first 3 months followed by a definitive lip revision, usually within the first 6 months of age, permits the surgeon to perform

c

The head bonnet aids the surgeon in reducing tension at the lip suture site. The force generated at PVS is less than that created by using mechanical premaxillary retraction (see Chap. 20)

surgery in stages as the face changes. Logan’s Bow can be used to reduced the strain at the lip suture when the definitive lip surgery is performed. Surgeons who favor stage treatment procedure are willing to postpone obtaining a maximum early aesthetic result for what they believe will offer superior long-term benefits. The most severe, unaesthetic premaxillary overbite in the deciduous and mixed (transitional) dentition, even with a buccal crossbite, will not interfere with dental function or swallowing or have any longterm deleterious effects on speech and midfacial growth. Serial facial photographs indicate that surgical procedures that use the entire prolabium for the central portion of the lip produce the best aesthetic results. A long, tight lip is the predictable result when the lateral lip elements are brought together beneath the prolabium (see Fig. 6C.10a, b).

6C.6

Profile Changes (Figs. 6C.14–6C18)

Hanada and Krogman [52], Berkowitz [7], Bishara and Olin [50], Boyne [53], Vargervik [19], Handelman and Pruzansky [12], Friede [9], Semb [28], and Narula and Ross [38] all have performed longitudinal studies of the changing soft-tissue profile of bilateral cleft lip and/or palate (BCL/P) and reported that, with the slow resolution of the protruding premaxilla with growth, the profile became more harmonious in appearance. In the Oslo study of BCLP, Semb [25] concluded that early dentofacial orthopedics were not a necessary precursor to lip and palate closure in order to attain long-term positive profile changes.

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a

c

Serial profile analyses of cast and cephalographs reported in Berkowitz’s earlier studies and the serial studies presented in this text demonstrate that, during the first 2 years following surgery, the united lip exerts a posteriorly directed pressure force on the protruding premaxilla. He speculates that this force is exerted through the nasal septum to the premaxillary vomerine suture, gradually retarding the forward and vertical growth of the nasal septum with the attached premaxilla. The growth of the lateral palatal segments does not appear to be affected by this force. Inhibition of midfacial growth coupled with forward and vertical growth of the upper face and mandible is responsible for the eventual flattening of the facial profile (Figs. 6C.5, 6C.6). Protrusion of the midface is only slightly reduced by the reduction-remodeling of the labile surface of

b

Fig. 6C.10 a–c. Use of the prolabium for the center portion of the lip. IBCLP. a, b, and c Facial photographs at 20 days, 3 months, and 18 months. The banked forked flap (Millard): the tissue in the nostril is used to lengthen the columella at a later date. The procedure avoids going back to a good lip for tissue to reconstruct the columella

the premaxilla associated with the eruption of the permanent incisors. Facial growth data suggest that the tendency toward mandibular prognathism can be considered advantageous, insofar as it reduces the earlier protrusion of the premaxilla. Comparison of the profile changes in children whose lips were united at 6 years with infants whose lips were united soon after birth showed less premaxillary protrusion for children whose lips were repaired in infancy. This suggests that the beneficial effect of lip repair is long-acting in that it continues to exert a restraint on the growth of the premaxillary-vomerine complex long after the lip is repaired [4, 7, 19]. After the lip is united, there are no documented long-term benefits to using intraoral neonatal maxillary orthopedics to control the premaxilla’s position relative to the lateral palatal segments (i.e., to inhibit

Chapter 6C

Complete Bilateral Cleft Lip and Palate

Fig. 6C.11. Before and after line drawings demonstrating the use of orthopedics for the correction of a malocclusion in a BCLP. 5-9 Frontal and lateral tracings of a child with a bilateral cleft lip and palate before orthopedic treatment. Intracuspid width was 17 mm; intramolar width was 27 mm; and the interincisal angle was 183°. 7-6 After premaxillary advancement and buccal expansion, the intracuspid width changed to 25 mm, intramolar width to 37 mm, and the interincisal angle to 145°. All changes in measurements were dependent on the bodily (orthopedic) movement of the bony segments and not on the movement of teeth (orthodontics). After the palatal segments are properly aligned, the movement of teeth will follow. While waiting for the permanent teeth to erupt, the new arch form needs to be retained with a fixed appliance

Table 6C.1. Timing and sequencing of surgical-orthodontic treatment (conservative).

Age

Orthodontics

After birth

CBCLP-external elastics (off head bonnet) over protruding premaxilla – no obturator

Surgery

3–4 weeks

Lip adhesion

6 months

Millard Forked Flap

18–30 months

von Langenbecka (simultaneous closure of the hard and soft palate)

4–5 years

Correction of buccal crossbite only using a fixed quad helix palatal expander

5–7 years

Fixed palatal retention

7–8 years

Align anterior teeth prior to secondary alveolar bone graft (SABG)

Secondary bone graft using cranial or iliac crest bone

9–13 years

Full banded treatment with or without maxillary protrachon (Delaire faciai mask)

Nasal tip revision

13–17 years

Full orthodontics. Evaluate need for surgicaiorthodontics (Distraction osteogenesis or Lefort I)

Maxillo-mandibular surgeryb Nasal-lip revision

17–18 years

Postsurgical orthodontics followed by prosthetics

Nasal-lip revsions

a Timing of palate closure depends an the width of the cleft space relative to the adjoining palatal surface area. Anterior cleft is left open. b Maxillo-mandibular surgery is usually performed earlier for females (around 15–16 years of age) than males whose surgery is performed during the summer prior to the senior high school year. This allows for maximum facial growth changes and leaves enough time to perform postsurgical orthodontics and prosthetic treatment.

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a

b

c

f

d

e

Fig. 6C.12 a–f. Millard’s surgical lip procedure uses the pro-

labium to construct the entire midportion of the lip over the protruding premaxilla. This case was selected to show an example to severe upper lip protrusion that can result due to a

the palatal segments from spontaneously moving together), nor is it important that the premaxilla be accommodated within the arch at this time. There is no evidence that overlapping palatal segments suffer growth inhibition. In most cases, proper premaxillary alignment within the lateral palatal segments can be easily achieved with orthodontics in the deciduous or mixed dentition without resorting to neonatal maxillary orthopedics. The following cases show that orthodontics in the permanent dentition, in the absence of growth-inhibiting palatal surgery, and with a good or poor facial growth pattern, eventually will lead to ex-

severely protruding premaxilla. This case and other presented in this chapter will show how the face improves with time, that is, facial growth

cellent facial aesthetics and dental function. Any resulting buccal crossbite can be easily corrected at 4 or 5 years of age, when the child is manageable in a dental chair, using fixed tooth-borne or even removable arch expansion appliances. The author strongly favors the use of fixed appliances for arch expansion and retention. There are many occasions when the profile shows midfacial retrusion, due to severe ventroflexion of the premaxilla.As long as during the mixed dentition gingivoperiosteoplasty has not been performed (see Chap. 20), the premaxilla can easily be brought for-

Chapter 6C

ward orthodontically and held in place until alveolar bone grafting is performed. Retention of the corrected maxillary arch is still necessary until orthodontics are completed (Fig. 6C.11).

6C.6.1 Why Some Premaxillae Continue to Project Following Lip Repair and Others Do Not The cases being presented will show that there are a number of treatment planning facial factors. For example, the patient’s facial growth pattern and the amount of palatal osteogenic deficiency are beyond the control of the surgeon. The integrated growth of the entire face is important to resolve the profile deformity. When the end result is unfavorable – that is, the facial profile remains highly convex – the premaxilla and the body of the maxilla usually have grown forward with limited forward mandibular projection or tension has been created at the PVS, causing further premaxillary protrusion. Facial growth studies by Handelman and Pruzansky [12] and by Berkowitz (presented in this chapter) have shown that, in highly convex facial profiles with a moderately protrusive premaxilla and a recessive mandible, the lip musculature usually is hypertonic and positioned over the upper incisor teeth, resulting in severe premaxillary ventroflexion. In mesognathic faces with isotonic or hypotonic lip musculature and a severely projecting premaxilla, the lower lip may be positioned lingual to the premaxilla and between the upper and lower incisors, creating an anterior component of force at the premaxillary vomerine suture (PVS). This may cause additional bony growth at the suture, leading to greater premaxillary protrusion with a normal maxillary incisal axial inclination. The lower incisors may be tipped lingually (Figs. 6C.11, 6C.12). The serial record present in the case reports to follow will show that it can be anticipated that in most cases (53 out of 59 CBCLP; S Berkowitz, unpublished data) good faces will have developed at adolescence. Figure 6C.14 shows serial computer-generated CBCLP palatal cast outlines which were superimposed on the palatal rugae and registered on the vomer. All of these cases had the palate closed between 18–24 months using a von Langenbeck with modified vomer flap (it was readily observed at every age period). This illustration clearly demonstrates that the premaxilla is in the same place in the palate at adolescence as it was at birth. It is retained in place by the surrounding facial musculature in most cases. There are exceptions, usually dependent on the balance of the facial musculature.

Complete Bilateral Cleft Lip and Palate

6C.6.2 Dental Occlusion Analyses of the dental occlusion of many patients with complete bilateral clefts of the lip and palate at 6 years of age rarely show retruded maxillary shelves (i.e., a Class III relationship) [7]. The buccal teeth are most often in a Class I or 2 relationship. A Class III relationship exists only if the maxilla is retrusive due to severely retarded growth caused by traumatic surgery and/or the patient’s phenotype. The mandible is rarely prognathic at this age. In many cases, due to palatally osteogenic deficiency and severe dental crowding in the maxillary arch, some teeth may need to be extracted. This may or may not have to be done in the mandibular arch. There is conclusive evidence to suggest that the cleft palatal shelves may be deficient in mass, but there is no evidence that they have lost their growth impetus from having been detached from the growing nasal septum. Until proven otherwise, the surgeon should have confidence that the severe facial convexity seen at birth can diminish with time as the united lip restrains the forward development of the midface while the mandible increases in size and is positioned more downward and forward relative to the growing anterior cranial base and midface.

6C.6.2.1 After Birth In general, no presurgical orthopedics were provided other than the use of a head bonnet. In complete bilateral cases only, an external facial elastic may be utilized to ventroflex the protruding premaxilla to reduce tension at the surgical site when utilizing lip adhesion. External traction is usually not necessary in incomplete clefts of the lip and palate. The Forked Flap (Fig. 6C.13)

All of the bilateral cases were treated with Millard’s Forked Flap [54]. It was designed to lengthen the columella as a primary or secondary procedure. Advantages include: ● Release of depressed nasal tip ● Lengthen the short columella ● Reduce an unattractive wide prolabium ● Revision of bilateral lip scars ● Reduction of flaring alar bases

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S. Berkowitz Fig. 6C.13. In 1956–1957 Millard designed a secondary forked flap for columella lengthening. He believed at times it is best to take a little tissue from the prolabium and the lip and store it in the area for later use in reconstructing the columella. The forked flap was originally designed as a secondary procedure; however, it can be used as a primary procedure when the columella is extremely short and the prolabium is of reasonable size. Top: In the primary forked flap, the fork flap is elevated and advanced into the columella with release of the nasal tip. Bottom: The whisker fork flap involves joining the lip muscle and banking the fork. The alar bases are joined together in the midline and the forks partially tubed on themselves and led into the transverse incisions between the lip and alar bases, whisker fashion. This surgery is delayed several years. Millard likes this procedure best of all

Fig. 6C.14. Computerized digital tracings of the perimeter of the outline of CBCLP palatal casts superimposed on the palatal rugae and registered on the vomer. Palatal cleft closure between 18 and 24 months using a von Langenbeck and vomer flap. Note that the premaxilla is held in place while the palate grows in all directions; posterior palatal growth occurs to accommodate the developing molars. None of these cases were treated with presurgical orthopedics

Chapter 6C

Complete Bilateral Cleft Lip and Palate

Fig. 6C.15. In spite of the lip surgery performed, the position of the premaxilla in the anterior dentition is determined by the facial pattern and tonicity of the surrounding facial musculature. Case #746: Protruding premaxilla surrounded by hypotonic lip musculature. Case #742: Retrognathic mandible with protrusive premaxilla. The lower lip is positioned between the upper and lower incisors creating a forward force at the PVS.

The resulting increase in tension at the PVS stimulates additional growth and causes increase in inclination of the upper incisors. Case #174: Retrognathic mandible with less premaxillary protrusion hypertonic lip musculature creating severe lip pressure which ventroflexes the premaxilla. Variations in premaxillary position is unpredictable [12]

Millard [54] suggests that the primary fork flap procedure is not appropriate for all bilateral cleft cases. Whether to use the procedure depends on: (1) The position of the premaxilla. It should not be used when the premaxilla is severely protruded. (2) The size of the prolabium. The width of the prolabium determines whether the flap is possible, and the vertical length indicates the amount of columella lengthening available. (3) Columella length. This discrepancy must be measured not only in actual length in millimeters

of the columella but an estimation of the patient’s desired final length must also be made. There are occasions where the forked flaps from the prolabium are banked with a subalar incision, whisker fashion. The alar base is not advanced medially in an attempt to leave a subalar gap in which to store the forks. Millard delays shifting of the banked forked flap into the columella for several years (from 6 months to 6 years).

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S. Berkowitz Fig. 6C.16. Early premaxillary surgical setback and palatal cleft closure at 7 months of age. The lateral lip elements were brought together below the prolabium. Results at 7 years of age: (1) long tight upper lip, (2) anterior open bite due to failure of the premaxilla to descend with the palate, and (3) the surgery (push back) used to close the palatal cleft at 7 months obliterated the vault space interfering with tongue posture. The tongue is, therefore, being carried forward with the tongue tip protruding, preventing the incisors from reaching the occlusal plane

a

b

c

Fig. 6C.17 a–c. The lateral lip elements were brought below the prolabium creating a long tight lip

Chapter 6C

Complete Bilateral Cleft Lip and Palate

a

b

Fig. 6C.18 a, b. Good facial growth pattern with hypertonic lip musculature. a Lateral cephalometric tracing shows a gradual increase in the angle of facial convexity (NaPo) from 116° to 169° with the greatest change (159° to 169°) occurring between 5 years and 6 years, 5 months of age. At 5 years the axial inclination of the anterior teeth is vertical with an appreciable incisor overjet. However, at 6 years, 5 months the premaxilla is palatally inclined, placing the upper and lower incisors in a tip-to-tip relationship. This usually occurs with a relatively retrognathic mandible when the lower lip also overlaps the upper incisors, increasing the muscle pressure against the premaxilla. If the lower lip is positioned between the upper and lower incisors, the premaxilla with its incisors will flare. b Superimposed polygons show a very small mandible with a protruding premaxilla at 0-1-18. There is a marked anterior growth of the anterior cranial base (N) and, together with the mandible’s vertical and horizontal growth changes, a reduction in the angle of facial convexity. Note that there is very little change in premaxillary protrusion within the face between ages 1-2-22 and 7-8-12

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S. Berkowitz

6C.6.2.2 In the Deciduous Dentition (3–6 Years of Age) The purpose of treatment at this age is to align the palatal segments in order to obtain a more normal contour to the alveolar ridge, reshape the palatal vault, and provide a more symmetrical foundation for the support of the lips and nose. These changes are possible because orthodontic treatment in cleft palate allows for the movement of palatal segments when using a von Langenbeck procedure in addition to altering the position of the teeth within the alveolus. Because the roof of the mouth is also the floor of the nose, realignment of the palatal processes not only produces desirable alteration in the contour of the palate, but also induces similar changes within the floor of the nose. Most clinicians agree that nontraumatic conservative surgery will not solve all problems for all complete bilateral cleft lip and palate cases. Although buccal crossbites can be corrected in the deciduous dentition, some advocate orthodontic/orthopedic repositioning of the premaxilla at a later age (in the mixed dentition prior to or after secondary alveolar bone grafting) when the facial growth pattern leaves no alternative and dictates that it is the procedure of choice. Some orthodontists prefer to do this in the permanent dentition.

cisors and cuspids) adjacent to the cleft to erupt or be moved into proper position. In Berkowitz’s experience, a protruding premaxilla – with or without a large anterior cleft space – at 6–7 years of age does not signify that the same unpleasant aesthetic conditions will persist into adolescence. After the pubertal facial growth spurt, when the facial convexity is markedly reduced because of increased mandibular and upper facial growth, facial aesthetics will be greatly improved in most patients. There is strong psychosocial pressure on clinicians to improve facial aesthetics as soon as possible, even when the premaxilla cannot be retropositioned in the absence of an anterior cleft space. For this reason, many unsuccessful attempts have been made to surgically or mechanically set the premaxilla back at an early age in the hope of preventing an unaesthetic midface at a later age, believing the midfacial growth would still be normal.At this difficult period, every effort should be made to convince both the parents and the child, using before and after photographs, that facial aesthetics will greatly improve as the face grows and that the long-term benefits far outweigh any early improvements at the expense of future good facial growth.

6C.6.2.4 At Adolescence 6C.6.2.3 Mixed Dentition (6–11 Years of Age) When a child with a cleft starts elementary school, even if the protruding premaxilla still extends far forward of the lateral palatal segment creating a severe convex facial profile, a surgical premaxillary setback should be considered solely for aesthetic reasons because there can be long-term deleterious effects. This decision is a difficult one. One is damned if one does or doesn’t! One has to balance the child’s social and psychological needs with long-term facial developmental factors. In the last 20 years, many reports published with improved documentation were critical of surgical premaxillary setback performed in the newborn period, or even in early adolescence prior to the prepubertal growth spurt. Fortunately, these criticisms led to abandonment of this procedure [19]. Orthodontics applied during the mixed dentition, in preparation for or after secondary alveolar bone grafting (the placement of bone in the alveolar cleft after the first year of age), can aid in reducing the premaxillary overbite and maintaining the premaxilla within the lateral palatal segments. Eliminating the alveolar cleft permits the unerupted teeth (lateral in-

If a poor facial growth pattern at adolescence with a large anterior cleft space leads to a protruding premaxilla set well forward in the facial profile and the mandibular incisors, the premaxilla can be surgically set back.A secondary alveolar bone graft is simultaneously performed to close the remaining anterior cleft space. A fixed palatal retainer or a heavy labile arch wire must be utilized for at least 2 months as a supporting splint for the three segments during the healing period. There are cases in which both buccal segments are in a Class I relationship, a large anterior cleft space is present, and the premaxilla is missing one or both lateral incisors, yet it is in an ideal overjet and overbite relationship. If the surgeon believes that the anterior cleft space is too large to be successfully closed by a secondary alveolar bone graft, the only remaining option is to surgically advance one or both palatal segments, placing the buccal teeth in a Class II relationship with at least one, but sometimes both, of the cuspids in the lateral incisor space. This usually necessitates the surgical increase in posterior transpalatal width. A secondary alveolar bone graft is performed at the same time [55].

Chapter 6C

There are too many variations of orthodontic problems to review each of the treatment plans separately. However, in most cases, a common treatment sequence is usually followed. First, the posterior palatal crossbite needs to be orthopedically corrected in the deciduous or mixed dentition using quadhelix mechanics. Reducing maxillary arch crowding by tooth extractions may be necessary due to the lack of palatal osteogenic tissue. Achieving ideal anterior teeth aesthetics often requires that the lost lateral incisor spaces be recovered for the eruption of impacted lateral incisors or cuspids. In most cases, establishing room for four maxillary incisors by expansion and slight incisor advancement is the ideal treatment. A slightly retrusive maxilla with mild crowding may require the advancement of the upper jaw using protraction forces for at least 6–12 months to obtain an ideal anterior overbite-overjet relationship. In some instances, the extraction of one lower incisor to correct the mandibular anterior arch will be necessary to reduce an anterior crossbite. In all cleft types, involving the lip and palate, orthodontic surgical treatment decisions are often dictated by the relationship of the premaxilla to the lateral palatal segments and the facial growth pattern (i.e., whether the face is prognathic, mesognathic, or retrognathic). For example, if a slightly retruded maxilla and a retrognathic mandible coexist, it may be necessary to surgically advance the lower jaw with or without doing the same to the maxilla. In most cases, orthopedic protraction to move the maxilla should be considered first. If one or both maxillary buccal teeth are in a Class II relationship and one or both lateral incisors are absent, it is advantageous to move one or both cuspids into the lateral incisor space after secondary alveolar bone grafting. Eruption of the maxillary cuspids with its supporting alveolar bone usually closes off any remaining anterior cleft space. In very rare instances, when a large anterior cleft space exists and there is insufficient mucoperiosteum to close this space and a good anterior overbite-overjet relationship exists, the treatment of choice is to advance one or both palatal segments to make contact with the well-positioned premaxilla. A secondary alveolar bone graft can be performed at the same time [55] (Fig. 6C.59).

Complete Bilateral Cleft Lip and Palate

After the pubertal facial growth spurt, the once protruding premaxilla usually is no longer an aesthetic problem. Not surprisingly, at this age the midface may be retruded even if the premaxilla was not surgically or mechanically set back and especially if there is good upper and lower facial growth. Treatment now needs to be focused on advancing the midface and/or the premaxilla using either orthopedic forces from a protraction facial mask or a maxillary osteotomy (LeFort I advancement). In 30 years of clinical experience, surgical premaxillary retropositioning was performed only twice and only for aesthetic demands. It was never necessary to reduce its protrusion at the adult stage. Facial growth (time) ultimately is the surgeon’s and orthodontist’s best friend – and a most trenchant critic.

6C.6.2.5

Retention

Permanent retention of the maxillary arch form in all clefts of the lip, alveolus, and palate is sometimes necessary even after secondary alveolar bone grafting, depending on the extent of transpalatal scarring and lip-cheek pressure. It requires either a removable palatal prosthesis or preferably a fixed bridge spanning the cleft. Arch collapse with a return of buccal and/or anterior crossbite can occur rapidly in the presence of extensive lip and transpalatal scar tissue, because scar tissue has limited stretch capability.

6C.7

The Following Case Studies Represent Conservative Surgical and Orthodontic Treatment Sequence

Cleft lip and cleft palate defects offer a degree of habilitation that is not available for many equally serious congenital or acquired handicaps. Achieving this potential requires careful planning and skillful execution of treatment that respects individual growth patterns (Table 6C.1). The following cases were selected to show various treatment procedures, some of which were unsuccessful but nevertheless have teaching value because they reflect on physiological principles (Figs. 6C.19–6C.73, Tables 6C.2–6C.4).

119

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a

d

g

b

c

e

f

h

Fig. 6C.19 a–i. Case TM (WW-9) demonstrates excellent facial

i

and palatal growth changes in an incomplete bilateral cleft lip and palate treated conservatively (no PSOT). a Newborn. b At 7 months, after lip closure. c 4 years, 2 months. Note buccal crossbite on the left side. The crossbite was corrected by 4 years, 7 months using a fixed palatal expander. d At 8 years after the central incisors were aligned and a secondary alveolar bone graft was performed at 7 11/42 years. Note that lateral incisors are erupting through the graft. e Palatal view at 7 11/42 years. f Full face at 17 years. g Close-up of lip. h Occlusion at 17 years after orthodontics. i Palatal view showing good vault space with minimal scarring

Chapter 6C

Fig. 6C.20. Case TM (WW-9). Serial palatal cast changes when no presurgical orthopedics were utilized. 0-1 Newborn, prior to lip surgery. 0-4 After lip adhesion the lateral palatal segment moved medially behind the premaxilla. 0-8 The cleft space is much smaller and continues to decrease in size with palatal

Complete Bilateral Cleft Lip and Palate

growth. The premaxillary position at this age poses no treatment or growth problem. 1-2 The palatal cleft was closed with a modified von Langenbeck procedure. 1-9 Ideal incisal overbite and overjet. 2-6 and 4-2 Left buccal crossbite which was corrected at 4-6 using a fixed palatal expander. 4-7 Good occlusion

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Fig. 6C.20. (continued)

Chapter 6C

Complete Bilateral Cleft Lip and Palate

䊴

Fig. 6C.20. (continued) 4-11 Outline of fixed palatal retainer is

seen on the case. Note that the premaxilla is now positioned within the palatal segments. 6-2 The central incisors in the area of the cleft are frequently found to be rotated. 8-0 Six months after a secondary alveolar cranial bone graft. The right and left

lateral incisors have erupted through the graft. 10–5 The lateral incisors are aligned with the central incisors. 15–5 Excellent occlusion after orthodontia. A removable maxillary retainer is being used to maintain the arch form

a

b Fig. 6C.21 a, b. Case TM (WW-9). This series depicts an excellent facial growth pattern. a Computerized tracings of facial

skeletal and soft tissue profile changes. At 14-11, the profile measurements are well within the normal range. b Facial polygons superimposed on the SN line and registered at S demonstrate that the excellent facial growth pattern reflects some anterior cranial base growth, very little forward growth of the midface, and excellent mandibular growth in a downward and forward direction. Note that the midface was still protrusive at 7-9, but after the mandibular pubertal growth spurt (13-8), the facial profile flattened markedly

b Fig. 6C.22. Case TM (WW-9) Computerized tracings of facial skeletal and soft tissue profile changes. At 14-11, the profile measurements are well within the normal range. b Facial polygons superimposed on the SN line and registered at S demonstrate that the excellent facial growth pattern reflects some anterior cranial base growth, very little forward growth of the midface, and excellent mandibular growth in a downward and forward direction. Note that the midface was still protrusive at 7-9, but after the mandibular pubertal growth spurt (13-8), the facial profile flattened markedly

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a

b

d

e

g

h

Fig. 6C.23 a–q. Case DK (AI-31) demonstrates unsuccessful

use of Latham’s presurgical premaxillary mechanical retraction procedure in a CBCLP, which then required the use of external facial elastics prior to lip surgery. a At birth, note the very small protruding premaxilla. b Facial photograph with Millard-Latham (M-L) mechanical premaxillary retraction appliance in place. c Intraoral view of M-L appliance in place. The appliance was not able to retract the premaxilla due to its small size and was discarded. d After wearing a head bonnet with an elastic strap for 2 weeks, the lip was united over the premaxilla. At 2 months the nasal tip is severely depressed. e At 3 years of age, the banked tissue of the “forked flap” waiting to be placed in the

c

f

i

j

columella. f 5 years of age. Note excellent occlusion. Radiographs showed that there were no permanent incisors in the premaxilla. g and h At 8 years of age, the nasal tip has been elevated, but there is poor upper lip support due to the now retruded premaxilla. Lower right and left first bicuspids were extracted at 13 years to reduce the anterior crossbite. i, j, and k at 15 years of age, the mandible is growing forward at a more rapid rate and degree than the maxilla. The earlier buccal and anterior crossbites were corrected and two lateral incisors from the lateral palatal segments were brought into position, improving facial aesthetics

Chapter 6C

Complete Bilateral Cleft Lip and Palate

k

l

m

n

o

p

q

Fig. 6C.23 a–q. (continued) l–q The maxillary anterior deciduous teeth were extracted

and an anterior bridge fabricated to improve dental function and aesthetics

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Fig. 6C.24. Case DK (AI-31). a Serial dental casts. 1-1-0 and

0-2-0 Note the severely protruding and small premaxilla. 0-2-0 and 0-6-0 The premaxilla ventroflexed under the influence of extraoral elastics attached to a head bonnet. 0-7-0 Marked in-

crease in palatal size coupled with a big reduction in the anterior cleft space. 2-0-0 Class II right and Class I left occlusion with a severe anterior overjet. Premaxillary surgical setback should not be performed

Chapter 6C

Fig. 6C.24. (continued) 3-6 Note only a small overjet and overbite with a mesioangular rotation of the lateral segments placing the cuspids into crossbite. 4-4 The premaxilla is forward of the lateral palatal segments, with a normal dental overbite/ overjet is normal. This occlusal relationship remained for the

Complete Bilateral Cleft Lip and Palate

next 5 years. The anterior cleft space is left open waiting for additional palatal growth. The anterior palatal cleft did not pose a speech or feeding problem and would allow for palatal expansion

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Fig. 6C.24. (continued) 9-8 The remaining deciduous central

incisor is now in an anterior crossbite associated with the lack of midfacial development. 12-4 The lower anterior teeth were unsuccessfully advanced to reduce the arch crowding. The excessive flaring necessitated extraction of the lower first bicuspids. This was followed by retraction of the incisor teeth and space closure with reduction of the severe anterior crossbite.

15-8 Right and left deciduous lateral incisors are brought into position; however, an anterior arch discrepancy still remains. Because of the poor root development of the deciduous lateral incisors, they later were extracted and replaced with an anterior fixed bridge. Comment: This case clearly demonstrates that the anterior occlusion cannot be predicted at birth, therefore, early premaxillary surgical setback should not be performed

Chapter 6C

Fig. 6C.25. Case DK (AI-31). Computerized drawings of palatal casts using an electromechanical digitizer. Each cast form is drawn to scale but not its size. The premaxilla is gradually aligned within the lateral palatal segments after the initial ventroflexion. The ratio of palatal size to cleft size increases

Complete Bilateral Cleft Lip and Palate

with growth. The anterior cleft space is left open until a secondary alveolar bone graft is placed. The palatal cleft was closed at 4-0 leaving an anterior palatal fistula which was closed with a secondary alveolar bone graft at 12-1

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S. Berkowitz Table 6C.2. Surface Area of CBCLP. Case DK (AI-31).

Skeletal Area

Cleft Space

Age

Premax

RLS

LLS

0-1

55.6

314.1

254.2

0-3

79.2

366.6

317.5

0-4-15

86.1

362.4

0-5-10

99.5

356.2

0-7

111.7

0-8 1-0

Tot

Total

Ant

Post

Tot

SA + CS

623.9

102.9

138.8

341.7

965.6

763.3

150.5

191.8

342.4

1105.7

300.8

749.3

56.1

259.3

315.4

1064.7

322.5

778.2

70.3

175.8

245.5

1023.7

361.9

321.3

794.9

45.2

168.0

213.2

1008.1

106.8

376.0

351.0

833.8

85.6

149.1

234.7

1068.5

100.3

428.1

327.2

855.6

55.6

198.8

249.4

1105.0

1-2

132.8

432.6

389.3

954.7

55.7

189.8

245.5

1200.2

1-5

127.6

507.3

418.1

1053.0

51.2

180.8

232.0

1285.0

1-10

132.6

493.4

421.1

1047.1

39.4

194.9

234.3

1281.4

2-1

117.8

492.6

473.0

1083.4

32.3

168.8

201.1

1284.5

2-5

116.7

503.0

456.0

1075.7

16.1

177.3

193.4

1269.1

2-10

133.6

556.3

449.3

1139.2

17.8

191.2

209.0

1348.2

3-5

102.2

451.8

434.3

988.3

11.2

97.7

108.9

1097.2

3-11

110.7

506.1

427.6

1044.4

94.4

94.4

1138.8

4-4

112.1

501.9

438.5

1052.5

95.4

95.4

1147.9

5-2

115.3

547.0

481.3

1143.6

97.2

97.2

1240.8

5-11

112.2

541.5

514.0

1167.7

82.5

82.5

1250.2

6-5

106.9

646.8

547.5

1301.2

85.7

85.7

1386.9

6-8

102.2

635.8

552.1

1290.1

97.8

97.8

1387.9

7-1

102.1

638.8

591.7

1332.6

67.8

67.8

1400.4

7-11

107. 1

667.2

592.4

1366.7

53.3

53.3

1420.0

8-2

104.8

650.9

624.4

1380.1

40.6

40.6

1420.7

8-5

72.5

647.0

597.4

1316.9

40.5

40.5

1357.3

8-11

68.9

704.2

638.8

1411.9

41.6

41.6

1453.5

9-10

81.7

770.5

708.4

1560.6

42.8

42.8

1603.4

10-5#

64.5

726.4

702.4

1493.3

44.9

44.9

1538.2

10-9

86.5

745.0

704.0

1535.5

55.6

55.6

1591.1

11-4

109.9

782.8

804.1

1696.8

32.2

32.2

12-6

103.7

799.8

895.7

1799.2

1799.2

13-8

81.1

895.4

914.3

1890.8

1890.8

15-11 16-3

83.8 75.4

1060.6 1086.4

1037.2 1069.3

2181.6 2231.1

2181.6 2231.1

1729.0

Note: Premax = Premysxilla; RLS = Right Lateral Segment; LLS = Left Lateral Segment; Tot = Total Surface Area; Ant = Anterior Cleft Space; Post = Posterior Cleft Space; Tot = Ant + Post; SA + SC = Bony Surface Area + Cleft Space Area; #: Changing teeth.

Chapter 6C Fig. 6C.26 a, b. Case DK (AI-31). a, b Serial lateral cephaloradiographic tracings show changes in the skeletal and soft tissue profile. The upper lip gradually became recessive, reflecting the lack of midfacial growth and superimposed Basion Horizontal facial polygons of Coben. The midfacial protrusion seen at 12 years, 5 months is no different to that seen at 5 years, 5 months of age. At 10 years of age, the midface was more recessive, but with the application of premaxilla advancement orthodontics for 2 years, it was positioned more anteriorly. The lower jaw showed progressive downward and forward growth. As in all faces that grow well, this growth pattern was mainly responsible for the flattening of the facial profile. Comments: I must stress that the Coben analysis demonstrates the forward/downward growth of the entire maxillary and mandibular growth, therefore, the maxilla actually recede due to growth at the upper and lower face

a

b

Complete Bilateral Cleft Lip and Palate

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a

b

c

d

e

f

g

Fig. 6C.27 a–p. Case PM (KK-22). Serial photographs demonstrate excellent facial and palatal growth in CBCLP. Time is an ally! No presurgical orthopedics other than the use of external elastics off a head bonnet for 10 days prior to lip surgery; arm restraints were used to prevent removal of the head bonnet The palatal cleft was closed at 8 years of age using a modified von Langenbeck procedure. Secondary alveolar cranial bone grafting was done at 8 years of age. a and b At birth, an extremely

h

protrusive premaxilla. c Head bonnet with elastic over the premaxilla. d The lip cleft was closed using Millard’s forked flap procedure. The tissue in the nostril is used to reconstruct the columella at a later date so that the surgeon need not go back to the lip for tissue. e Occlusal view at 5 years of age. Note that the premaxilla is still protrusive. f The lip is being pushed forward by the protruding premaxilla. The palatal cleft was closed at 8-6. The face at 5 years showing upper lip protrusion

Chapter 6C

i

j

k

n

Complete Bilateral Cleft Lip and Palate

l

o

Fig. 6C.27 a–p. (continued) i 11-01 The premaxilla is still protrusive. j, k, and l At 20 years of age the occlusion is ideal. Minor imperfections in the anterior teeth were corrected by the use of composite material. m Ideal arch form with a normal palatal

m

p

vault space. Good alveolar bone support to the lateral incisors. n, o, and p Facial photographs at 20 years of age showing a harmonious and pleasing soft tissue profile. Comments: No protraction midfacial mechanics were used

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Fig. 6C.28. Case PM (KK-22). Serial casts: 0-1 At birth the septum is deviated to the left, and the right palatal segment is laterally displaced. 0-4 With an external elastic and lip surgery, the premaxilla flexes ventrally and medially, making contact

with both palatal segments. The remaining casts show excellent buccal occlusion in Class II relationship with overbite and severe anterior overbite and overjet

Chapter 6C

Complete Bilateral Cleft Lip and Palate

Fig. 6C.28. (continued) By 8-3 the anterior overjet is markedly reduced by growth. 13-11 Conventional orthodontics were eventually used to reduce the Class II occlusion and align the anterior teeth into an ideal overbite-overjet relationship

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Fig. 6C.29. Case PM (KK-22). Computer-generated outlines of the serial casts were performed using an electromechanical digitizer. All casts are drawn to scale. The casts range from 12 days to 17 years, 4 months of age. This series demonstrates the spontaneous closure of the anterior and posterior cleft spaces after

“molding action” brought on by uniting the lip and then by gradual palatal growth at the border of the cleft space. The premaxilla was initially aligned forward of the lateral palatal segments but was satisfactorily incorporated within the arch at a later age

Table 6C.3. Surface Area of CBCLP. Case PM (KK-22).The palatal surface area increased by 4096 after 1 year, 4 months and by 7696

at 2 years, 1 month. By 8 years, 2 months, the palatal surface area had increased two and a half times rohen the cleft space was closed. Skeletal Area Age

Premax

Cleft Space RLS

LLS

Tot

Ant

Total Post

Tot

SA + CS

0-0-12

145.5

335.5

282.7

763.7

127.4

417.0

544.4

1308.1

0-3

150.2

397.4

377.6

925.2

65.4

331.5

396.9

1322.1

1-4

154.0

469.5

464.3

1087.8

36.8

265.5

302.3

1390.1

1-10

211.8

502.6

506.2

1220.6

70.4

216.3

286.7

1507.3

2-1

217.6

589.0

549.5

1356.1

79.8

195.3

275.1

1631.2

2-10

220.7

603.9

551.3

1375.9

95.8

193.2

289.0

1664.9

3-10

271.6

660.4

616.5

1548.5

122.6

206.3

328.9

1877.4

5-8

273.3

673.0

675.9

1622.2

123.6

201.2

324.8

1947.0

6-7

273.6

811.0

820.5

1905.1

115.0

206.5

321.5

2226.6

7-4

277.3

813.0

839.5

1929.8

106.7

185.2

291.9

2221.7

8-2

306.5

844.6

890.8

2041.9

101.1

155.4

256.5

2298.4

12-3

346.8

1087.1

1116.1

2550.0

2550.0

14-0

348.7

1161.8

1226.4

2736.9

2736.9

14-5 17-4

351.1 353.5

1198.8 1241.0

1237.0 1246.3

2786.9 2840.8

2786.9 2840.8

Note: Premax = Premysxilla; RLS = Right Lateral Segment; LLS = Left Lateral Segment; Tot = Total Surface Area; Ant = Anterior Cleft Space; Post = Posterior Cleft Space; Tot = Ant + Post; SA + SC = Bony Surface Area + Cleft Space Area; #: Changing teeth.

Chapter 6C

Complete Bilateral Cleft Lip and Palate

Fig. 6C.30. Case PM (KK-22). Palatal outlines were superimposed using the rugae for registration. This series shows that the premaxilla’s position within the maxillary complex at 17 years of age is similar to that seen at birth. Excellent growth occurs in all dimensions and is similar to the growth pattern seen in noncleft palates. Increased posterior palatal growth is necessary to accommodate the developing molars. Alveolar bone growth with tooth eruption increases midfacial height. Comments: The position of the anterior premaxilla relative to the anterior cranial base (Nasion) to the anterior position of pogonion of the mandibular symposium shows the same relative position from birth to 17 years of age. These 2 studies confirm that midfacial growth is retarded

Fig. 6C.31. Case DK (AI-31). Premaxillary ventroflexion with medial movement of the lateral palatal segments caused a great reduction in the anterior and posterior cleft spaces by 5 months of age. Thereafter, for the next 19 months, the anterior cleft

space gradually reduced, while the posterior cleft space showed some increase due to the increase in palatal length. Both lateral palatal segments showed a similar, gradually increasing growth rate

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Fig. 6C.32. Case DK (AI-31). After the initial change in cleft size brought on by medial movement of the lateral palatal segments and ventroflexion of the premaxilla, the greatest acceleration of cleft space closure occurred between 2-10 and 3-5. The premaxilla reached its largest size by 3 years, which is associated with eruption of the teeth. Palatal growth acceleration oc-

curred between 1 to 3 months and 12 to 14 months and then gradually tapered off. The palatal segments had increased 37% in size by 1 year and 74% by 2 years. Palatal growth at its medial borders still occurs; even though it narrows the cleft space, the total cleft space is increasing in size due to the increase in palatal length

Chapter 6C

Fig. 6C.33. Case PM (KK-22) Time sequence analysis of serial palatal growth shows that both palatal segments are growing at the same rate and to the same degree. The premaxilla is also increasing in size with tooth eruption but at a lesser rate. The greatest palatal growth acceleration occurs the first 2 years and then tapers off. The anterior cleft space is initially reduced as a result of premaxillary ventroflexion, but thereafter it remains

Complete Bilateral Cleft Lip and Palate

the same dimensions until the palatal cleft is closed. The posterior cleft space initially is reduced with palatal medial movement. The resulting posterior cleft space remains approximately the same size for the next 8 years. It must be remembered that the cleft length is increasing while the cleft width is decreasing. The net cleft area is gradually reducing with growth. All fistulae are closed by 12–3 years of age

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Fig. 6C.34. Serial midpalatal cross-sections showing vault height and palatal width changes using stereophotogrammetry. The left lateral palatal segment is attached to the vomer – while the right lateral palatal segment is displaced laterally.A lip muscle adhesion causes the displaced palatal segment to move medially, narrowing the cleft space. The appositional growth of the alveolar segments is continuous and becomes more obtuse.

Closure of the palatal cleft space with a modified vomer flap maintains a normal vault height, and vault space flattening of the vault occurs in almost all cases in the absence of a vomer flap. Comments: A vomer flap with a von Langenbeck procedure seems to create a minimum scarring. Vomer flap alone performed early (6 months to 1 year) created excessive scarring

Chapter 6C

Complete Bilateral Cleft Lip and Palate

a

b Fig. 6C.35 a, b. Case PM (KK-22) a Cephalometric serial tracings of the skeletal and soft tissue profile show marked reduction of the midfacial protrusion. b Superimposed serial tracings using Coben’s Basion Horizontal method show an excellent facial growth pattern which straightens the skeletal profile. There is very little forward midfacial growth between 11 and 20 years of age. During the same time period, growth at the anterior cranial base and the mandible contributed to flattening of the facial profile

Fig. 6C.36. Case PM (KK-22). Cephaloradiographs taken at 5 years of age. Top: At rest with teeth together. Middle: Taken while vocalizing “Youu . . .” Bottom: Taken while vocalizing “Sss . . .” Comments: When vocalizing both sounds, the velum elevates and makes contact with the adenoids. The pharyngeal depth is relatively small. The adenoids are of moderate size, the velum is of good length and shows good elevation. This is not a functional test to evaluate velopharyngeal closure but it does show the well-proportioned oral and nasal pharyngeal spaces which are conducive to good velopharyngeal closure. A gap space more than 5 mm may indicate VPI exist with inadequate lateral pharyngeal wall movements

141

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a

b

c

d

Fig. 6C.37 a–e. Various palatal expansion appliances. a “W”

e

appliance with finger springs designed to move the central incisors forward while correcting the posterior crossbite. b “W” appliance. c Arnold expander: a .040 wire is inserted into a .040 tube; the compressed open coil spring exerts a gentle lateral force moving the two segments apart. A larger diameter (.045) tube wire allows the cuspids to be moved laterally more than the molars. d A Hyrax expander, which needs a lever and parent involvement to activate the very strong expansion force. This appliance is rarely necessary with meager transpalatal scarring. e A three-part removable expansion plate used to simultaneously advance and expand the anterior and buccal segments in a BCLP. Appliances that attach to the teeth are more reliable and efficient than removable ones

Chapter 6C

a

Complete Bilateral Cleft Lip and Palate

b

c

d

e

f

g

Fig. 6C.38 a–s. Case ML (KK-56) demonstrates severe premax-

illary protrusion at birth in IBCLP. “Whisker” forked flap was performed at 2 months, definitive lip surgery at 6 months, and palatal cleft closure at 18 months. Secondary alveolar cranial

bone grafting was placed at 8 years, 3 months. Maxillary surgery with chin augmentation was performed at 15 years, 7 months. a–g Facial and intraoral photographs show progressive facial and occlusal changes

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S. Berkowitz

h

i

j

k

l

m

n

Fig. 6C.38 a–s. (continued) h, i, and j Facial photographs at 8 years of age. k After Lefort I advancement, the lateral incisor pontics were attached to the arch wire for aesthetics. l and m Occlusal photographs showing missing incisor spaces

Chapter 6C

o

q

Complete Bilateral Cleft Lip and Palate

p

r

Fig. 6C.38 a–s. (continued) n, o, and p Intraoral photographs showing retainer with lateral incisor pontics in place. q, r, and s Facial photographs at 17 years of age. Case ML (KK-56) demonstrates severe premaxillary protrusion at birth in IBCLP. h, i, and j Facial photographs at 8 years of age. k After Lefort I advancement, the lateral incisor pontics were attached to the arch wire for aesthetics. l and m Occlusal photographs showing missing incisor spaces. n A partial upper retainer in place with

s

pontics for missing lateral incisors. Case ML (KK-56) demonstrates severe premaxillary protrusion at birth in IBCLP. o, and p Intraoral photographs showing a fixed bridge to replace both upper lateral incisors. q, r, and s Facial photographs at 17 years of age. A prominent symphysis is noted. Comment: This case shows the need to keep the lateral incisors spaces open in order to obtain good anterior overbite and overjet in the presence of strong mandibular growth

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Fig. 6C.39. Case ML (KK-56). Serial casts from 0-0-2 to 4-3: With the establishment of an intact lip musculature, the premaxilla and lateral palatal segments molded into a good arch form. The premaxilla, although latero- and ventroflexed, still

caused the upper lip to be pushed forward. The left buccal crossbite was corrected by 8 years of age and a fixed palatal retainer placed

Chapter 6C

Fig. 6C.39. (continued) 15-7 Orthodontic treatment was designed not to correct the slight Class II occlusion of the left segment. 15-9 After Lefort I osteotomy and final teeth alignment. Because the premaxilla was positioned slightly to the right and could not be centered orthodontically, it was decided to leave

Complete Bilateral Cleft Lip and Palate

the left occlusion in Class II and the right occlusion in Class I, thereby equalizing the space for the lateral incisors. 17-0 A cuspid-to-cuspid fixed bridge replaced the missing lateral incisors and stabilized the relationship of all segments

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S. Berkowitz Fig. 6C.40. Case ML (KK-56). Serial cephalo-

metric tracings showing well-proportioned facial growth with a flattening of the facial profile. The protrusive premaxilla was present at 7-10. Orthodontia at 11 years of age improved the axial inclination of the maxillary incisors. The profile at 15-3 is more attractive than that at 17-3 as a result of the chin augmentation at 15-7. The chin point is too protrusive, resulting in a prominent sublabial fold

Fig. 6C.41. Case ML (KK-56). Superimposed polygons show an excellent facial growth pattern flattened the profile by 15-3. Midfacial osteotomy corrected the maxillary asymmetry.A chin augmentation was performed at 15-7 years which created a too prominent chin. The mandible continued to grow until 17-3 years of age, creating a slightly concave skeletal profile. The patient is considering having the chin prominence reduced. Comment: Rarely should a chin augmentation be performed with a LeFort I advancement to avoid creating a “dished in” face if the midfacial advancement relapses. Note the small forward growth increments at the anterior cranial base and midface. The midfacial changes did show good vertical growth to maintain normal facial proportions

Chapter 6C

Fig. 6C.42. Case CW (BG-71). Serial casts demonstrate forward advancement of the buccal segments to reduce a very large anterior palatal cleft space. There are instances when a marked osteogenic deficiency exists in both lateral incisor areas where the premaxilla is in a slight overjet-overbite relationship and the buccal segments in a good Class I relationship. In these cases, there may be insufficient contiguous soft tissue to close the anterior palatal cleft space when performing a secondary alveolar bone graft and create a normal site for tooth replacement. The

Complete Bilateral Cleft Lip and Palate

treatment of choice is to advance both buccal segments, simultaneously placing secondary alveolar bone grafts, yet leaving space for the lateral incisors. After surgery the cuspids were to return to their original Class I position. It was believed that with early premaxillary setback there would be inadequate soft tissue to obtain adequate cleft closure, but worst of all it would have created a severely retruded midface which would have required midfacial advancement

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Fig. 6C.42. (continued) 15-5 Good premaxillary relationship

with a large anterior palatal cleft space. Class I posterior occlusion. Sectioned plaster casts with the posterior segments placed in a Class II relationship. 16-3 and 17-2 Both buccal segments relapsed into Class I. The main objective of closing the anterior palatal cleft spaces was achieved. Final casts show a good Class

I occlusion with a satisfactory overjet-overbite relationship. The anterior palatal cleft space was closed. However, the alveolar bone graft did not take. In most cases the advanced lateral palatal segments will remain forward with the cuspids in the lateral space

Chapter 6C

a

b

c

e

g

Complete Bilateral Cleft Lip and Palate

d

f

h

Fig. 6C.43 a–z. Case CS (AF-48) demonstrates severe premaxil-

lary protrusion in a child with CBCLP at birth, resulting in maxillary retrusion in adolescence with the eventual loss of the premaxillary incisors. Lip adhesion was performed at 3 months with forked flap and posterior palate cleft closure at 3 years. No secondary alveolar bone grafts were utilized. Premaxillary sur-

i

gical advancement at 15 years to correct its retrusion. The premaxillary incisors were extracted due to severe periodontal bone loss, and the anterior palatal oronasal opening was closed at 16 years of age. a and b Newborn. c–i Even with premaxillary ventroflexion, the upper lip was still pushed forward

151

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S. Berkowitz

j

m

p

k

n

q

Fig. 6C.43 a–z. (continued) i–l A plastic obturator was utilized at 6 years of age to close the very large anterior palatal cleft space to aid speech development and feeding. m–o At 14 years,

l

o

r

a retrusive looking midface with an extremely tight upper lip and depressed nasal tip masked a good premaxillary overjet

Chapter 6C

s

v

y

t

w

Complete Bilateral Cleft Lip and Palate

u

x

z

Fig. 6C.43 a–z. (continued) u At 15 years following an unsuc-

cessful attempt to surgically center the premaxilla and close the anterior cleft space. The maxillary incisor roots began to show severe external root absorption.A very large anterior cleft space remains. v–y After lip and nose revision, the anterior teeth were extracted and the oronasal opening closed with adjoining soft tissue. z A removable maxillary prosthesis replaced missing

teeth and bumpered the upper lip forward. Comments: It would have been better treatment to have surgically advanced both palatal segments to close the very large anterior palatal cleft space. The root absorption was secondary to traumatic orthodontics utilized to maintain the incisor overjet with a protective facial mask and cross elastics

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Fig. 6C.44. Case CS (AF-48). Serial casts show that the extreme premaxillary protrusion with large anterior cleft space at birth is still present at 6-1 years of age

Chapter 6C

Fig. 6C.44. (continued) 11-6 With increased facial growth, the

increasing tonicity of the buccal muscle forces collapsed the maxillary arch placing the posterior teeth in crossbite. The premaxilla is now upright and in an acceptable overbite-overjet relationship. 12-3 Maxillary expansion has been initiated. The

Complete Bilateral Cleft Lip and Palate

maxillary central incisors are in tip-to-tip relationship. 14 Continued orthodontic treatment to advance the premaxilla and position the incisor teeth in proper overjet-overbite relationship

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tioning with soft tissue closure of the anterior cleft space was unsuccessful. As a result of the premaxillary central incisors showing external root absorption and loss of periodontal support, they were extracted and the oronasal opening closed with

adjacent soft tissue. A removable maxillary prosthesis replaces the missing teeth and bumpers the upper lip. Comment: As already suggested, the treatment of choice is to reposition the lateral palatal segments anteriorly while leaving the premaxilla as is

Fig. 6C.45. Case CS (AF-48). Computerized tracings of serial casts drawn to scale. This shows the lack of palatal growth and reduction in cleft space over 2 years prior to surgical closure of the palatal cleft. The anterior cleft space remains large up to 15-2 years. 16-9 and 17-8 The premaxillary incisors were extracted. Comment: This case clearly demonstrates the severe

degree of osteogenic deficiency that can exist in bilateral clefts of the lip and palate. The once protruding premaxilla can become retrusive with growth (time) and may eventually need to be brought forward. Although palatal growth does occur, it may not be sufficient to appreciably reduce the posterior cleft space

Fig. 6C.44. (continued) 15-2, 16, and 16-6 Premaxillary reposi-

Chapter 6C

Complete Bilateral Cleft Lip and Palate

Fig. 6C.46. Case CS (AF-48). The palatal segments show a very gradual growth acceleration curve, while the posterior cleft space gradually reduces in size

157

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a

b

Fig. 6C.47 a, b. Case CS (AF-48). a Serial cephalometric tracings. This analysis show a protrusive midface at 4-2 becoming recessive at 14-4. b Serial facial polygons superimposed according to Basion Horizontal method (Coben). The midface advanced only slightly after 6-4, while the mandible showed progressive downward and forward growth until 14-6, flattening the facial profile. Comments: This case clearly shows (1) that, even with a severely protruding premaxilla at birth, the premaxillary incisors can be in anterior crossbite after the pubertal growth spurt; (2) traumatic orthodontic advancement of the premaxillary incisors can lead to external root absorption and loss of alveolar support; and (3) surgical advancement of one or both lateral palatal segments, placing the cuspids in the lateral incisor spaces, with secondary alveolar bone grafting is the treatment of choice in cases when the premaxilla is in good overjet-overbite relationship and a large anterior cleft space exists. Only in very rare instances should the premaxilla be surgically set back to the lateral palatal segments. (4) Premaxillary surgical setback is contraindicated prior to the postpubertal facial growth spurt

Chapter 6C

Fig. 6C.48. Case ML demonstrates poor facial growth pattern in a BCLP leading to a retruded midface with a severe anterior open bite. This patient came to the clinic at 5 years, 7 months of age with an anterior open bite. The upper lip was long and tight with the lateral elements brought together below the prolabium. The palatal cleft was closed at 12 months of age. At 13-10, a removable plate replaced the right central incisor. At 15-11,

Complete Bilateral Cleft Lip and Palate

orthodontic preparation for Lefort I posterior-impaction. At 16-4, after maxillary surgery. At 19-9, after anterior fixed bridge used to stabilize the palatal segments and replace missing teeth. The changes in occlusion and total facial height led to a more relaxed soft tissue profile. With reduction in lower vertical facial height, the upper to lower lip position became more aesthetic

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a

b

Fig. 6C.49 a, b. Case ML. Superimposed serial cephalometric tracings on SN and registered at S before surgery. a Between 5-7 and 15-11 the face demonstrated a very poor growth pattern associated with diminished midfacial growth. The incisors were in tipto-tip relationship at 5-7; by 6-7 the anterior open bite with a retruded midface was present, which became worse with time. b Serial cephalometric tracing superimposed on SN and registered at S, after posterior impaction and maxillary advancement. The mandible autorotated closing the anterior open bite. The curvature to both lips became more prominent and aesthetic. Comment: Placing the lateral lip elements below the prolabium creates a long and tight upper lip. Maxillary growth disturbance is always expressed in all three dimensions, resulting in diminished vertical and horizontal growth increments. Maxillary advancement with slight posterior impaction causes mandibular autorotation, bringing the lower incisors upward and anteriorly closing the anterior open bite. The middle and lower vertical facial heights became more harmonious

Chapter 6C

Fig. 6C.50. Case CT (AV-62) demonstrates a severe premaxillary overjet leading to a retruded midface and the successful use of protraction orthopedics. This patient was adopted from Central American parents. 4-6 It is important to note the wide cleft

Complete Bilateral Cleft Lip and Palate

space with an excellent Class I buccal occlusion prior to surgical cleft closure. 5-3 Two months after palatal cleft closure, the occlusion is still acceptable

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Fig. 6C.50. (continued) 7-6 and 8-5 A secondary alveolar bone

graft was placed at 8-0. The anterior teeth are in a tip-to-tip relationship with the buccal occlusion in crossbite. 13-0 Complete anterior and buccal crossbite. Preparation is made to begin orthodontic treatment to expand the maxillary arch as well as to advance the maxillary complex with protraction mechanics. 17-4 After orthodontic treatment. A lower central incisor was extracted to allow for incisor, retraction. Excellent occlusion is retained with a Hawley appliance. Comment: This case clearly demonstrates that, in complete clefts of the lip and palate, the lateral palatal segments at birth can be in good relationship with the lower arch and not collapsed, as McNeil suggests. In

most cases, the surface area of the lateral palatal segments can be considered to be too small when compared to the cleft size. Too early cleft closure using a von Langenbeck procedure will leave large areas of uncovered bone when the mucoperiosteum is moved medially. Denuded bone undergoes epithelialization with scarring, which in turn interferes with palatal growth in all three dimensions, leading to the buccal and anterior crossbite. In this case, protraction mechanics were successful. However, because the ideal overjet-overbite relationship could not be achieved, it was necessary to remove a lower central incisor to retract the anterior segment. This benefited the buccal occlusion as well

Chapter 6C

Fig. 6C.51. Case RB (AG-73). Serial dental casts. Closure of a large anterior cleft space in a BCLP by bringing impacted cuspids into position and aligning the lateral incisors. 10-2 Class II malocclusion in the mixed dentition with a severe overjet and overbite. Bilateral deciduous cuspid crossbite with no anterior cleft space. 10-7 With loss of the deciduous cuspid and its supporting alveolar bone along with the horizontal impaction of the permanent cuspids, there was deficient alveolar bone between the lateral palatal segments and the premaxilla, creating

Complete Bilateral Cleft Lip and Palate

a large anterior cleft space. 11-2-0 Waiting for the eruption of permanent bicuspids before initiating orthodontics. 13-0-0 After the horizontally impacted cuspids and their supporting alveolar bone and the lateral incisors were brought within the arch, the premaxillary overjet was reduced. Both of these factors were responsible for the closure of the anterior cleft space. This was followed by a secondary alveolar cranial bone graft to close fistulae and remaining cleft spaces

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S. Berkowitz Fig. 6C.51. (continued) 13-2 Final occlusion with a full complement of teeth. Comment: The clinician must always consider the importance of the alveolar bone supporting the teeth whether they are in alignment or malpositioned.When all of the teeth in the lateral palatal segments can be accommodated within the arch, the anterior cleft space can usually be closed without an osteotomy

Fig. 6C.52. Case RB. Cephalometric view of the pharyngeal at rest and with space and velar elevation. 10-2 Left: At rest, and when vocalizing “Youu . . .” Although there is good velar elevation, the velum does not make contact with the adenoid. Right: Vocalizing “Sss . . .” This sound produces velar stretch, permitting contact to be made with the adenoid. 13-2 Good velar ele-

vation when vocalizing “Youu . . . “ and “Sss . . . “. Comment: Cephalometric evaluation is necessary to view the structure of the pharyngeal space (see Chaps. 11 and 12). This is not a functional test to evaluate velopharyngeal competency, but it may give some insight into why velopharyngeal incompetency may exist

Chapter 6C

a

d

Complete Bilateral Cleft Lip and Palate

b

c

e

f

Fig. 6C.53 a–r. Case ES (EE-34) demonstrates excellent facial

g

growth pattern in a IBCLP showing good midfacial growth. An external elastic off a head bonnet was used to ventroflex the premaxilla prior to lip surgery. The lip was united at 5 months of age using a Fork flap procedure. The palatal cleft was closed at 43 months of age using a modified von Langenbeck procedure. a and b Face and palate at birth. c and d 3 months after lip surgery. e–i 5 years of age with excellent buccal occlusion and good overbite-overjet relationship of the anterior teeth. Upper lip is protrusive

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h

i

j

k

l

m

Fig. 6C.53 a–r. (continued) j and k 10 years of age after secondary alveolar bone grafting. l and m A left cuspid crossbite resulted

from secondary alveolar bone graft surgery

Chapter 6C

n

o

q Fig. 6C.53 a–r. (continued) n–r 16 years. After orthodontics was completed. The left lateral incisor erupted through the bone graft; the right lateral incisor is missing. The arch form is main-

Complete Bilateral Cleft Lip and Palate

p

r

tained with a removable Hawley retainer, which carries a lateral incisor replacement

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Fig. 6C.54.

Chapter 6C

Complete Bilateral Cleft Lip and Palate

䊴

Fig. 6C.54. Case ES (EE-34). Serial dental casts. 0-0-12 At birth. 0-1-0 After uniting the lip, the premaxilla has been positioned adjacent to the lateral palatal segments. 2-7 The palatal cleft is still open. Tongue force has moved the premaxilla forward. 3-5 After palatal cleft closure there is excellent buccal occlusion. 4-3, 5-1, 7-3, and 8-1 Good buccal and anterior occlusion is present for the next 4 years

Fig. 6C.54. (continued) 12-4 and 13-3 This crossbite remains for the next 3 years and does not hinder dental function. 16-10 and

18-1 After orthodontics. Good Class I occlusion with good anterior overjet and overbite

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Fig. 6C.55. Case ES (EE-34). Computer-generated images of serial palatal casts. All of the casts are in proportion. Palatal growth occurs on all surfaces but mainly transversely and posteriorly to accommodate the unerupted molars. Although the palatal surface is gradually increasing in size, the posterior cleft

space remains almost constant in size over the same period of time. When the palatal cleft was closed at 43 months, more mucoperiosteal tissue was available to prevent growth-inhibiting scar tissue from being created

Fig. 6C.56. Case ES (EE-34). Computer-generated outlines of palatal casts superimposed on the palatal rugae. This study demonstrates that palatal growth occurs mainly in the posterior and transverse areas with very little premaxillary growth. More significantly, it shows that the premaxilla is relatively stable in its geometric position within the maxillary complex, that is, the face grows up to and around the original position at birth

Chapter 6C

Complete Bilateral Cleft Lip and Palate

Fig. 6C.57. Case EE-34. Very gradual growth acceleration curve while the posterior cleft space closed very rapidly between 42 and 52 months of age. The premaxilla’s growth was negligible

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S. Berkowitz Fig. 6C.58 a, b. Case ES (EE-34). a Serial

a

b

cephalometric tracings show ideal facial measurements evolving. A superior-based pharyngeal flap is outlined in 18-1. b Serial polygons superimposed according to the Basin Horizontal method (Coben). This series demonstrates an ideal facial growth pattern and reflects the use of physiological maxillary surgery: (1) The anterior cranial base shows good growth increments. (2) Midfacial growth increments are continuous and only slightly less than those seen at N (Nasion). (3) Mandibular growth shows more forward than downward changes which is conducive to the flattening of the facial profile. Comment: Taken together, all of these growth changes are conducive to the flattening of the facial profile. Such extensive midfacial growth is usually not seen in BCLP cases with such a large cleft space relative to the palate’s surface area that have had the palatal cleft closed earlier than 43 months of age. We speculate that this finding strongly suggests that: (1) delaying palatal surgery to 3 years of age may be more conducive to good midfacial growth in some cases than early (before 1 year) palatal closure. However, we believe that it is not necessary to postpone palatal closure to after 5 years of age in all cases. (2) Hypotonic lip pressure has not exerted sufficient pressure through the premaxilla to the premaxillary vomerine suture to reduce its growth before 16-6. However, between 16-6 and 18-1 midfacial growth has ceased

Chapter 6C

Complete Bilateral Cleft Lip and Palate

a

b

c

d

e

f

Fig. 6C.59 a–n. Anterior positioning of the lateral palatal segments in an adolescent with CBCLP to close a large anterior cleft space (Courtesy of [72]) A 16-year-old with repaired BCLP underwent combined orthognathic-orthodontic procedure to align the teeth, close the large cleft space while maintaining the existing premaxillary overjet-overbite relationship. a Initial cleft lip and palate deformity at 8 weeks of age. b Palatal view at

10. c and d Preoperative palatal and frontal view at 15 years showing large anterior cleft space and dental crowding of the lateral palatal segments. The right second bicuspid is to be extracted. e Preoperative occlusal view showing large cleft space with posterior positioned lateral palatal segment. f Preoperative panorex at 17 years of age

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g

h

i

j

k

l

Fig. 6C.59 a–n. (continued) g Occlusal radiograph. h Line

drawing of the proposed palatal surgery showing the posterior widening and anterior movement of the lateral palatal seg-

ments. i, j, and k Postoperative intraoral photographs. l Postoperative panorex

Chapter 6C

Complete Bilateral Cleft Lip and Palate Fig. 6C.59 a–n. (continued) m Occlusal radiographs. n Postoperative frontal facial view.

Comment: There was limited alveolar bone support to the lateral incisor areas. The premaxilla was mobile. Marked velopharyngeal incompetence with regurgitation of fluid while drinking and intake of air, while speaking required a palatal obturator. The surgical plan was to extract the questionable lateral incisors and reposition the maxillary lateral segments to close the lateral incisor and large anterior cleft spaces

m

n

a Fig. 6C.60 a, b. Case CP (444) demonstrates the effects of early premaxillary surgical setback. The purpose of this surgical procedure is to establish ideal arch form prior to lip surgery. The procedure lost favor when surgeons found that it led to severe midfacial growth retardation and an anterior open bite. a Before and after premaxillary setback. The premaxilla is posi-

b

tioned within the arch. b 4 years later, the premaxilla, having been detached from the vomer, fails to descend with the palate with growth, creating on anterior open bite. Orthodontics in the permanent dentition will super erupt the maxillary incisors with only slight change in maxillary position (Courtesy of S. Pruzansky)

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Fig. 6C.61. A Kirschner wire that penetrated dental sacs of the central incisors, causing tooth malformation. Due to the spatial relationship of the premaxilla to the vomer, the Kirschner wire frequently fails to enter the vomer as seen here

Fig. 6C.62. Lateral cephalograph showing a malpositioned Kirschner wire. After the premaxilla is surgically retropositioned, surgeons used to attempt to stabilize it by placing wires of various sizes through the premaxilla into the vomer. The procedure has not been successful and should be abandoned because it can devitalize the teeth in the premaxilla and the wire can migrate to various areas within the skull

Fig. 6C.63 a, b. Two views of a Kirschner wire 35 years after insertion. a Panorex and b lateral cephalometric films show the displaced Kirschner wire located high in the vomer

a

b

Chapter 6C

a

d

g

j

b

Complete Bilateral Cleft Lip and Palate

c

f

e

h

i

Fig. 6C.64 a–j. Case LN demonstrates the effects of premaxillary incision. This case was referred to us 25 years ago after the premaxilla had been excised. This is the only case in our files where the premaxilla was removed at birth. The remaining teeth were badly decayed. The treatment plan required overlay dentures to both arches. As a precaution, all the teeth were crowned prior to the construction of the dentures. The upper lip was revised. a, b, and c Facial photographs, at the start of the treatment. d Maxillary arch with decayed teeth. e Denture over decayed teeth. f Upper and lower teeth were crowned. g Lateral head plate after dental reconstruction. h Upper and lower over dentures. i and j Facial photographs after lip revision

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S. Berkowitz Fig. 6C.65. a Premaxillary excision. Removal of the premaxilla

leads to a large oronasal opening with a retruded midface. Even at 1 year, 10 months of age, the upper lip is severely retruded. (courtesy of S Pruzansky.) b Premaxillary excision results in direct communication between the oral and nasal chambers

a

b

Chapter 6C

a

d

Complete Bilateral Cleft Lip and Palate

b

c

e

f Fig. 6C.66 a–q. Case CH (II-64). This case demonstrates the

need to advance the premaxilla after premaxillary surgical setback. A chin augmentation was necessary to neutralize the effect of excessive upper facial growth. a–i An external elastic off a head bonnet was used to ventroflex the premaxilla prior to lip surgery. As a result of the continuous premaxillary overjet, at

g

4-9 it was surgically set back. The palatal cleft was closed at 5-6 using a modified von Langenbeck procedure. A secondary alveolar bone graft was placed at 10-5. The patient’s family moved to a different state where the orthodontist unsuccessfully attempted to close the lateral incisor space by retracting the central incisors

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h

i

j

k

l

m

Fig. 6C.66 a–q. (continued) j An anterior open bite was created.

The patient returned to Miami. Treatment plan was changed to: (1) advance the premaxilla and open the lateral incisor space and (2) along with chin augmentation using autogenous bone from the inferior border of the symphysis. k, l, and m After

mandibular sagittal split surgery and orthodontic premaxillary advancement to recover lateral incisor spaces and advance the midface. A Hawley retainer with two false teeth were used to maintain the arch form

Chapter 6C

n

q

o

Complete Bilateral Cleft Lip and Palate

p

Fig. 6C.66 a–q. (continued) n and o Facial photographs showing a pleasing facial profile. p A fixed bridge replaced the removable retainer. q Shows a pharyngeal flap at A

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Fig. 6C.67. Case CH (II-64). Serial dental casts. 0-0-9 9 days of

age. 0-8 Premaxillary ventroflexion after uniting the lip. The palatal segments have moved medially making contact with the vomer. The premaxilla has uprighted but the anterior cleft

space is slow in reducing. 2-9 Severe overbite and overjet. Mesioangular rotation of both palatal segments placed the deciduous cuspids in crossbite. 4-1 and 4-9 The anterior overbite and overjet has reduced spontaneously

Chapter 6C

Fig. 6C.67. (continued) 4-11 The premaxilla was surgically set back. 5-5 The anterior open bite was eliminated. 6-5 The palate was expanded to correct the deciduous cuspid crossbite and to

Complete Bilateral Cleft Lip and Palate

allow the premaxilla to fit within the arch. 8-3, 10-7, and 11-5 Palatal retainer is used to hold the corrected arch form

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Fig. 6C.67. (continued) 15-8 An attempt to close the lateral incisor space orthodontically was unsuccessful. 16-5 Premaxilla advanced and lateral incisor spaces opened. 20 Fixed bridge replaces missing teeth and maintains the arch width and form

Chapter 6C

Complete Bilateral Cleft Lip and Palate

Fig. 6C.68. Case CH (II-64). Computergenerated palatal images drawn to scale. This series shows the gradual decrease in cleft space size from birth to 5-5 years. A posterior cleft space remained until 5-6. Alveolar cleft closed at 10-5. Comment: Hopefully, the research project currently under way will determine the best age, based on parameters such as the ratio of the palatal surface area to cleft space size, at which to close the posterior palatal cleft. The various facial-palatal growth studies presented in this chapter show great variation in palatal as well as facial growth patterns. Differential diagnosis to select the “best” time and surgical procedure to close the cleft space should not be based on age alone, but should consider the nature of the cleft defect – its size and the availability of tissue

Fig. 6C.69. Case CH (II-64)A rapid increase in palatal growth as the posterior cleft space reduces at almost the same rate. The reduction in anterior cleft space proceeds at a lesser rate. Palatal growth rate after surgery is the same as it was before surgery

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a Fig. 6C.70 a, b. Case CH (IT-64). a Serial cephalometric trac-

ings showing facial changes with a severely protruding maxilla at 4-11 and b superimposed polygons using the Basion Horizontal method (Coben). An excessive amount of growth occurred at the anterior cranial base (at N) and in the mandible mainly in the vertical dimension. With some minor midfacial growth the skeletal and soft tissue profile became more retrognathic and unaesthetic. Because of the prominent upper face, it was decided to improve facial aesthetics by advancing the premaxilla and to open the lateral incisor space. Notice the resulting larger incremental midfacial change resulting from the movement of A point between 16-6 and 17-2. Chin augmentation increased the mandibular prominence from an SNPo angle of 67.88° to 72.65°. With the lack of continued growth of the anterior cranial base between 16-6 and 17-2, the angle at facial convexity changed slightly from 175.59° to 176.22°. Comments:

b

The clinician should not evaluate the alignment of teeth only within the arch and occlusion without considering the effects of anterior tooth position on the developing facial profile. Retracting the maxillary central incisors along with A point to close the lateral incisor space made the midface appear very deficient and aesthetically unpleasant. Because of the large increment of anterior cranial base growth, it was necessary to advance both the midface and augment the chin. Therefore, when treatment planning, the protruding premaxilla at birth needs to be considered as part of the developing face and treatment options need to be left open until the facial growth pattern is identified and can be adjusted to its best advantage. It is important to emphasize that a mechanically or surgically retropositioned premaxilla does not advance in the midface with growth as a nonretracted conservatively treated premaxilla will do

Chapter 6C

a

b

e

h

c

f

i

Complete Bilateral Cleft Lip and Palate

d

g

j

Fig. 6C.71 a–k. Case AO (BM-82) shows surgical repositioning of the premaxilla in an adult. This patient had been under orthodontic-surgical care elsewhere. The orthodontist was reluctant to orthodontically correct the severe premaxillary overbite and left it to the surgeon. Because of the patient’s age, it was

k

decided that surgical premaxillary alignment was the treatment of choice. a–k Before and after surgery. The maxillary central incisors are stabilized with a Hawley retainer with two false teeth in the lateral incisor position

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S. Berkowitz Fig. 6C.72. Case AO (BM-82). Lateral cephalometric tracings showing correction of the premaxillary overjet and overbite in an adult. Comment: When a severe premaxillary overbite exists in the mixed and early permanent dentition, in most cases it can be successfully treated with orthodontics. The surgical cut is made between the premaxilla and the vomer. The need to protect the integrity of the PVS is not crucial at this age. Rigid arch wire stabilizes the corrected premaxillary position during healing

a

b

Fig. 6C.73 a–i. Case TK. Lip-Switch (Abbe Flap). The combination of a short columella and a short or long and tight upper lip requires secondary cleft lip surgery. Millard [68] strongly believes that, had the primary surgery been planned and executed properly, a lip-switch flap would most likely never be required. Unfortunately, there are occasions when the destruction of the lip landmarks and midfacial growth retardation require that tissue be brought in from outside and used to remove scars,

c

bring in muscle continuity, create a philtrum and even a bow, correct free border defects, and relieve tension. Millard suggests that the flap form the total central vertical length of the upper lip. It will then resemble the natural philtrum and can appear normal in spite of its scars. a, b, and c Repaired bilateral cleft lip and palate has resulted in a malformed, recessive midface with a scarred upper lip

Chapter 6C

Complete Bilateral Cleft Lip and Palate

d

e

f

h

i

g

Fig. 6C.73 a–i. (continued) d, e, and f The flap was taken from

the middle of the lower lip and inserted in the total central portion of the upper lip. g, h, and i After lips were separated. The

upper lip is symmetrical and shows a more normal looking vermillion. A dental prosthesis bumpers the upper lip

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References 1. Veau V. Le sequalette du bec-de-lievre. Ann Anat Pathol 1934; 11:873. 2. Veau V, Borel S. Division Palatine. Paris: Masson & Cie; 1931. p. 35. 3. Browne D. Hare-lip. Am R Coll Surg 1969; 5:1949. 4. Friede H, Pruzansky S. Longitudinal study of growth in bilateral cleft lip and palate from infancy to adolescence. Plast Reconstr Surg 1972; 49:392–403. 5. Bergland O, Borchgrevink H. The role of the nasal septum in mid-facial growth in man elucidated by maxillary development in certain types of facial clefts. Scand J Plast Reconstr Surg 1974; 8:42–48. 6. Harvold E. Cleft lip and palate: morphologic studies of the facial skeleton. Am J Orthod 1954; 40:493. 7. Berkowitz S. Growth of the face with bilateral cleft lip from 1 month to 8 years of age. Chicago: University of Illinois School of Dentistry; 1959. Thesis. 8. Friede H. The vomero-premaxillary suture – a neglected growth site in mid-facial development of unilateral cleft lip and palate patients. Cleft Palate J 1978; 15(4):398. 9. Friede H. Studies on facial morphology and growth in bilateral cleft lip and palate. Goteborg, Sweden: University of Goteborg; 1977. Thesis. 10. Atherton JD. Morphology of facial bones in skulls with unoperated unilateral cleft palate. Cleft Palate J 1967; 4:18–30. 11. Atherton JD. The natural history of bilateral cleft.Angle Orthod 1974; 44:269–274. 12. Handelman C, Pruzansky S. Occlusion and dental profile with complete bilateral cleft lip and palate. Angle Orthod 1968; 38:185–198. 13. Coup TB, Subtelny JD. Cleft palate deficiency or displacement of tissue. Plast Reconstr Surg 1960; 26:600. 14. Pruzansky S. Description, classification, and analysis of unoperated clefts of the lip and palate. Am J Orthod 1953; 39:590. 15. Pruzansky S. The growth of the premaxillary-vomerine complex in complete bilateral cleft lip and palate. Tandlaegebladet 1971; 75:1157–1169. 16. Friede H, Morgan P. Growth of the vomero-premaxillary suture in children with bilateral cleft lip and palate: a histological and roentgenocephalometric study. Scand J Plast Reconstr Surg 1976; 10:45–55. 17. Pruzansky S, Friede H. Two sisters with unoperated bilateral cleft lip and palate: age 6 and 4 years. Br J Plast Surg 1975; 28:251–258. 18. Friede H. Histology of the premaxillary-vomerine suture in bilateral cleft case. Cleft Palate J 1973; 10:14–22. 19. Vargervik K. Growth characteristics of the premaxilla and orthodontic treatment principles in bilateral cleft lip and palate. Cleft Palate J 1983; 20:289. 20. Berkowitz, S. Growth of the face with bilateral cleft lip from 1 month to 8 years of age. University of Illinois, 1959. Master’s thesis. 21. Burston WR. The pre-surgical orthopaedic correction of the maxillary deformity in clefts of both primary and secondary palate. In: Wallace AB (ed.) Trans-actions of the International Society of Plastic Surgeons, Second Congress, London, 1959. Edinburgh and London: E&S Livingston Ltd; 1960. p. 28–36. 22. Burston WR. Treatment of the cleft palate. Ann R Coll Surg Engl 1967; 25:225.

23. Latham RA. The septopremaxillary ligament and maxillary development. J Anat 1969; 104:584. 24. Latham RA. Development and structure of the premaxillary deformity in bilateral cleft lip and palate. Br J Plast Surg 1973; 26:1–11. 25. Scott JH. The analysis of facial growth, Part I: The anteroposterior and vertical dimensions. Am J Orthod 1956b; 44:507. 26. Scott JH. The analysis of facial growth, Part II: The horizontal and vertical dimensions. Am J Orthod 1956c; 44:585. 27. Enlow DH. Handbook of Facial Growth. Philadelphia: WB Saunders. 1982. 28. Semb G. A study of facial growth in patients with bilateral cleft lip and palate treated by the Oslo CLP team. Cleft Palate Craniofac J 1991; 28:22–39. 29. Ross RB. Treatment variables affecting facial growth in complete unilateral cleft lip and palate. Cleft Palate J 1987; 24:05–77 30. McNeil CK. Orthodontic procedures in the treatment of congenital cleft palate. Dent Rec 1950; 70:126–132. 31. Berkowitz S. Some questions, a few answers in maxillamandibular surgery. Clin Plast Surg 1982; 9:603–633. 32. Hellquist R, Svardstrom K, Ponten B. A longitudinal study of delayed periosteoplasty to the cleft alveolus. Cleft Palate J 1983; 20:277–288. 33. Dahl E. Craniofacial morphology in congenital clefts of the lip and palate – an x-ray cephalometric study of young adult males. Acta Odontol Scand 1970; 28 (Suppl):57. 34. Smahel Z.Variation in craniofacial morphology with severity of isolated cleft palate. Cleft Palate J 1984; 21:140–158. 35. Friede H, Johanson B. A follow-up study of cleft children treated with vomer flap as part of a three-stage soft tissue surgical procedure: facial morphology and dental occlusion. Scand J Plast Reconstr Surg 1977; 11:45–57. 36. Narula JK, Ross RB. Facial growth in children with complete bilateral cleft lip and palate. Cleft Palate J 1970; 7:239–248. 37. Pruzansky S, Aduss H. Prevalence of arch collapse and malocclusion in complete unilateral cleft lip and palate. Trans Europ Orthod Soc 1967; 1–18. 38. Steinhardt G. Der operative Verschluss der Lippen-KieferGaumen-Spalten mittels Pichler-Vomerlappen und Alveolarlappen. Fortschr Kiefer Gesichtschir 1973; 16/17:80–83. 39. Blocksma R, Leuz CA, Mellerstig KE. A conservative program for managing cleft palates without the use of mucoperiosteal flaps. Plast Reconstr Surg 1975; 55:160–169. 40. Delaire J, Precious D. Influence of the nasal septum on maxillonasal growth in patients with congenital labiomaxillary cleft. Cleft Palate J 1986; 23:270–277. 41. Delaire J, Precious D. Avoidance of the use of vomerine mucosa in primary surgical management of velopalatine clefts. Oral Surg Oral Med Oral Pathol 1985; 60:589–597. 42. Friede H, Moller M, Lilia J, Lauritzen C, Johanson B. Facial morphology and occlusion at the stage of early mixed dentition in cleft lip and palate patients treated with delayed closure of the hard palate. Scand J Plast Reconstr Surg 1987; 21:65–71. 43. Molsted K. Kraniofacial Morfologi hos born med komplet unilatral laebe-og Ganespalte. Copenhagen: University of Copenhagen; 1987. Thesis. 44. Enmark H, Bolund S, Jorgensen I. Evaluation of unilateral cleft lip and palate treatment: long term results. Cleft Palate J 1990; 27:354–361.

Chapter 6C 45. Bergland O, Sidhu SS. Occlusal changes from the deciduous to the early mixed dentition in unilateral complete clefts. Cleft Palate J 1974; 11:317–326. 46. Bergland O, Semb G, Abydholm F, Borchgrevink H, Eskeland G. Secondary bone grafting and orthodontic treatment on patients with bilateral complete clefts of the lip and palate. Am J Plast Surg 1986; 17:460–471. 47. Prysdo V, Holm PC, Dahl E, Fogh-Andersen P. Bone formation in palatal clefts subsequent to palato-vomer plasty: influence on transverse maxillary growth. Scand J Plast Reconstr Surg 1974; 8:73–78. 48. Wolfe SA, Berkowitz S. The use of cranial bone grafts in the closure of alveolar and anterior palatal clefts. Plast and Reconstr Surg 1983; 72:659–666. 49. Mazaheri M, Harding RL, Cooper JA, Meier JA, Jones TS. Changes in arch form and dimensions of cleft patients. Am J Orthod 1971; 60:19–32. 50. Bishara SE, Olin WH. Surgical repositioning of the premaxilla in complete bilateral cleft lip and palate. Angle Orthod 1972; 42:139–147. 51. Aduss H, Friede H, Pruzansky S. Management of the protruding premaxilla. In: Georgiade NG, Hagerty RF (eds.) Symposium on Management of Cleft Lip and Palate and Associated Deformities. April 12–14, Duke University, Durham, NC, 1973. St Louis, MO: CV Mosby; 1974. p. 111–117. 52. Hanada K, Krogman W. A longitudinal study of postoperative changes in the soft-tissue profile in bilateral cleft lip and palate from birth to 6 years. Am J Orthod 1975; 67:363–376. 53. Boyne PJ. The use of marrow cancellous bone grafts in maxillary alvbeolar and palatal clefts. J Dent Res 1974; 14:821–824. 54. Millard DR, Jr. The forked flap. In: Millard Dr JR (ed.) Cleft craft. Vol. 3. Boston: Little, Brown; 1978. 55. Posnick JC, Tompson B. Modification of the maxillary Lefort I osteotomy in cleft-orthognathic surgery: the bilateral cleft lip and palate deformity. J Oral Maxillofac Surg 1993; 51:2–11. 56. Cronin TD, Penoff JH. Bilateral clefts of the primary palate. Cleft Palate J 1971; 8:349–363.

Complete Bilateral Cleft Lip and Palate 57. McDowell P. Late results in cleft lip repairs. Plast Reconstr Surg 1966; 38:444. 58. Barsky AJ, Kahn S, Simon BE. Early and late management of the protruding premaxilla. Plast Reconstr Surg 1962; 29:58. 59. Glover DM, Newcomb MR. Bilateral cleft lip repair and the floating premaxilla. Plast Reconstr Surg 1961; 28:365. 60. Brauer RO, Cronin TD, Reaves EL. Early maxillary orthopedics, orthodontia and alveolar bone grafting in complete clefts of the palate. Plast Reconstr Surg 1962; 29:625–641. 61. Brauer R, Cronin T. Maxillary orthopedics and anterior palate repair with bone grafting. Cleft Palate J 1964; 1:31– 42. 62. Fara M, Hrivmakova J. The problem of protruding premaxilla in bilateral total clefts. Acta Chuir Plast 1965; 7:125. 63. Cronin TD. Management of the bilateral cleft lip with protruding premaxilla. Am J Surg 1956; 92:810. 64. Cronin TD. An overall plan of treatment for complete cleft lips and palate. In: Hotz R (ed.) Early treatment of cleft lip and palate. International Symposium, University of Zurich Reutal Institute. Berne: Hans Huber; 1964. p. 174–178. 65. Matthews DN. The premaxilla in bilateral clefts of the lip and palate. Br J Surg 1952; 5:77. 66. Matthews D. The collapsed maxillary arch. Scand J Plast Reconstr Surg 1974; 8:116–119. 67. Monroe CW, Griffith BH, McKinney P, Rosenstein SW, Jacobson BN. Surgical recession of the premaxilla and its effects on maxillary growth in patients with bilateral clefts. Cleft Palate J 1970; 7:84. 68. Monroe CW, Rosenstein SW. Maxillary orthopedics and bone grafting in cleft palate. In: Grabb WC, Rosenstein SW, Bzoch KR (eds.) Cleft lip and palate. Boston: Little, Brown; 1971. p. 573–583. 69. Millard DR Jr. The lip-switch flap. In: Millard DR Jr (ed.) Cleft craft. Vol 3. Boston: Little, Brown; 1978. 70. Berkowitz S. Growth of the face with bilateral cleft lip and palate from 1 month to 8 years of age. Chicago: University of Illinois School of Dentistry; 1959. Thesis. 71. Millard DR Jr. Cleft craft. Boston: Little, Brown; 1980. p. 3. 72. Posnick JC. Cleft orthognathic surgery, Robert P. Russell (ed). Plastic Surgery Educational Foundation Instructional Courses. St. Louis; Mosby: 1991. p. 142–145.

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6D Isolated Cleft Palate Samuel Berkowitz

In this cleft type (Fig. 6D.1), neither the lip nor the alveolar process is involved. The cleft may extend only through the soft palate or through the soft and hard palates, but it cannot exist in the hard palate alone because the fusion of the hard and soft palates proceeds from front to back (Figs. 6D.2, 6D.3). The cleft may extend anteriorly as far forward as the nasopalatine foramen. The outline of the cleft space may be wide or narrow, long or short; any variation in geometric form can exist (Figs. 6D4–6D6; see Chap. 4, Facial and Palatal Growth). Timing of surgical closure depends on the width and not the length of the cleft space. Hard palate clefts are frequently closed simultaneously with the soft palate cleft. In some instances, surgical closure of very wide hard palate clefts may need to be postponed until there is additional palatal growth, which may be as late as 5 or 6 years of age. An obturator with a pharyngeal extension (speech aid appliance) can be worn until the palate is closed (Figs. 6D7, 6D8).

Fig. 6D.1. Isolated cleft palate

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Fig. 6D.2. Isolated cleft palate. Serial casts demonstrate that, in

some cases, good Class I occlusion can occur when closing the cleft space at 18 months of age, or even later, using a modified von Langenbeck surgical procedure. This occlusal result supports Berkowitz’s contention that the “critical threshold level” for good palatal growth is determined by the size of the cleft space relative to the amount of available mucoperiosteal tissue.

This threshold, which has been determined to be a ratio of cleft size to palatal size medial to the alveolar ridges of 10% or less, is critical to the development of good arch form and occlusion. The threshold ratio, if exceeded by early palatal closure when the palatal size is relatively small compared to cleft size, will cause excessive palatal scar tissue resulting in midfacial growth inhibition

Chapter 6D

Fig. 6D.3. Case CR-BI 39. Patient with isolated cleft palate. No-

tice that the relative size of the cleft space diminishes as the palate grows and increases in size. The palate was closed with

Isolated Cleft Palate

the von Langenbeck at 18 months. Note the excellent occlusion which reflects on diminished palatal scarring. The patient has excellent speech

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tracings of isolated cleft palate. Isolated cleft palate. Superimposition horizontally on the rugae and registered vertically on the vomer line. This shows that most of the growth occurs posteriorly to accommodate the developing deciduous molars. Growth changes of the cleft space is highly variable. In some instances the cleft space can narrow or stay the same size. However in all instance the palate increases in size so the ratio of cleft space to surrounding palatal size reduces. In most cases time for surgery, determined by the ratio of 10%, is reached at 18–24 months. It can be earlier or even later in some cases

Fig. 6D.5. Case CR-BI 39

Chapter 6D

Isolated Cleft Palate

Fig. 6D.6. Serial size changes of the palate and cleft space

Fig. 6D.7. Case AN 92. Palatal closure at 1-5 using von Langenbeck procedure resulting in good occlusion

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Fig. 6D.8. Variations in isolated cleft palate. The length and

width of the cleft space is highly variable. The cleft extends anteriorly to various distances but not beyond the incisal canal. Note the relative size of the cleft palate space which reflects

differences in the degree of osteogenic deficiency. In some instances, the cleft space diminishes with time; however, there are occasions when the cleft’s relative size remains the same

6E

Submucous Cleft Palate Samuel Berkowitz

Fig. 6E.1. This cleft is characterized by a bifid uvula, lack of muscle continuity across the soft palate, and a pink zone of mucosa (zona pellucida) across the cleft in the hard palate.

A palpable notch in the posterior border of the hard palate is always indicative of the presence of a cleft. Not all patients with submucous cleft have VPI

7

Lip Pits; Orthodontic Treatment, Dentition and Occlusion; Associated Skeletal Structures Samuel Berkowitz

7.1

Lip Pits

7.1.1

Pits of the Lower Lip in Cleft Lip and/or Palate – Genetic Considerations

7.1.2

Pits of the lower lip such as fistulas of lower lip, paramedian sinuses of lower lip, humps of lower lip, or labial cysts are a very rare congenital malformation, first described by Demarquay in 1845 [1]. This minimally deforming anomaly is remarkable chiefly for its association with facial clefts. The fact that clefts that occur with lip pits seem to run stronger in families than clefts without lip pits has attracted the attention of professionals dealing with cleft patients (Figs. 7.1–7.5).

Frequency

No survey of lip pits has been carried out among the general population; hence the frequency of this rare anomaly has been only roughly estimated from its incidence in hospital records. Assuming that 70% [2] to 80% [3] of patients with pits of the lower lip have associated cleft lip and/or palate, and that the frequency of clefts is 1:650 (one in every 650 births), it can be estimated that the frequency of lip pits among the general population is about 1:75,000–1:100,000 (one in every 75,000 to 100,000 births).

Fig. 7.1. Lower lip pits in a child with a bilateral cleft lip and palate. a Before lip surgery. b After lip surgery at 6 months

a

b

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a

b

Fig. 7.2. a Pits in the upper and lower lips in a 20-year-old with a bilateral cleft lip and palate. b Close-up view

Fig. 7.3. Lip pits in the upper and lower lips in a bilateral cleft lip and palate

7.1.3

Morphology

Fistulas of the lower lip usually appear as two pits or humps on the vermilion portion of the lower lip, generally equidistant from the midline. Various kinds of asymmetry may be observed with regard to the midline, or one pit may be positioned more orally. Some pits are mere depressions; others are channels 10–15 mm deep with openings at the top of nipple-like elevations. Some secrete small amounts of viscous saliva but most are asymptomatic. In exceptional cases, only one pit is present, which may be located either centrally or on one side or the other of the midline of the lower lip. Some cases of single lip pit have occurred in families with members with double lower-lip pits. It can be assumed that a single pit is not a distinct entity but rather an incomplete expression of the trait. On the other hand, the rarely described fistulas of the upper lip [4, 5] have not shown any inheritance pattern. Fig. 7.4. Radiograph of a premaxilla showing two central and one lateral incisors (left) and twined lateral incisors and one malformed central incisor (right)

Chapter 7

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Commissural or angular lip pits – small, usually asymmetrical channels located at the lip angles – are also distinct entities with a much higher incidence and different embryology [2, 6–10].

7.1.4

a

b

Association with Other Malformations

In addition to their strikingly common association with cleft lip and/or palate, pits of the lower lip have been noted in association with other malformations. Gorlin and Pindborg [2] have found cases of lip pits along with anomalies of extremities, popliteal pterygia, and anomalies of the genitourinary system. The association with cleft lip and/or palate may well form a distinct new syndrome. A review of the literature suggests that a variety of other anomalies may be associated with lip pits. Among them: syndactyly of the hands together with cleft lip and palate [4, 11]; mental retardation and cleft, type not specified [12]; ankyloglossia and cleft lip and palate [3]; polythelia [14]; symblepharon and cleft lip and palate [15]; and ankyloblepharon, adhesion between the maxilla and mandible, and cleft uvula [16]. In two cases of the orofacial digital syndrome, pits were observed by [17].

Fig. 7.5. Missing and malformed anterior teeth. a A very small

premaxilla with one deciduous incisor but no permanent tooth buds. b Malformed deciduous maxillary anterior teeth and missing left deciduous anterior teeth

Fig. 7.6. Palatal expansion increases nasal width. At 12 years of age buccal crossbite correction of the cleft segment was performed by palatal expansion. Crossbite correction is orthopedic in that the cleft bony segment is moved laterally, widening the

nasal chamber on that side. Top: Right buccal segment is in crossbite. Bottom: After expansion: Palatal fistulae are exposed with the separation of the overlapped palatal segments

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7.1.5

Inheritance

7.1.6

In most cases of lip pits described during the last 120 years, a marked hereditary pattern was observed. Although all authors have excluded autosomal recessive inheritance or X-linked inheritance, there is no uniform opinion concerning whether or not the condition is due to a single autosomal dominant pleiotropic gene. Fogh-Andersen [18, 19] was the first to clearly point out that the inheritance of clefts in the families with a history of lip pits is of a different character than in families where no lip pits occur. According to FoghAnderson [18, 19] the role of genetic factors in families with lip pits is much more pronounced, and both genetically different types of clefts (cleft lip or cleft lip and palate and isolated cleft palates) commonly are found within a single family. Fogh-Andersen also stated that, in families in which fistulae of lower lip occur as a dominant hereditary character, there are some cases of cleft lip and cleft palate alone. Possibly it may be explained as the result of coupling of neighboring genes. Van der Woude [3], in a careful study of five pedigrees with clefts and lip pits, found that the combination of pits and clefts is based on a single dominant gene of variable expressivity. She agreed with other authors [12] that a mildly affected individual can pass the trait on in a very severe form, and a severely affected individual can pass the trait on in mild form. The sex of the individual is not a factor in passing on this anomaly. No sex limitation or preference exists. Patients with clefts but without lip pits (or their parents) often ask for genetic advice. In most of these cases, only a small risk of cleft lip (less than 10%) is indicated for the next child. But the counseling situation is significantly changed when associated lip pits are found. In this instance, all clefts in the family are considered part of the syndrome, and risk figures for clefts are remarkably higher.

Evidence of Heterogeneity

It is also clear that the risk of a cleft occurring in a child is significantly higher when the parent has lip pits and a cleft than when the parent has lip pits only. Two alternative explanations for this heterogeneity between families can be considered: (1) The development of clefts in persons carrying a “lip pit” major gene may be influenced by modifying genes at other loci; and (2) in some families, a mutant allele may produce lip pits with only occasional clefts; whereas in other families a different mutant allele (at the same or a different locus) may frequently lead to clefts in addition to lip pits. Thus far, efforts to use the data to support one or the other of these hypotheses have been unsuccessful. Cervenka et al. [20] reported data from 66 individuals with lip pits in his study and 446 cases with lip pits from the literature with known sex to establishing a 1:1 sex ratio. The frequency of the syndrome was estimated as 1:75,000 to 1:100,000 in the white population. Cervenka [20] further states that family histories can be explained adequately on the basis of autosomal dominant inheritance with variable expressivity of the trait. Penetrance is high, estimated at 80%. Pits show up more frequently than clefts, and there is a significant association between the types of clefts in parents and their children. Possibly the development of clefts in this syndrome is influenced by modifying genes or by different mutant alleles with a predilection for the different types of cleft.

7.2

Orthodontic Treatment, Dentition and Occlusion

7.2.1

Crossbite Correction (Figs. 7.7–7.12)

Bergland and Sidhu [21] advocated postponing orthodontic treatment until complete eruption of the permanent anterior teeth. Segmental alignment can then be corrected with simultaneous manipulation of the anterior teeth. We believe it is best to start maxilFig. 7.7. a Fixed palatal helix expander used

in deciduous dentition with or without an anterior finger spring. b Fixed “Arnold” expander using a compressed open coil spring to create an expansion force

a

b

Chapter 7

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b

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c

Fig. 7.8 a–c. Crossbite correction for bilateral cleft lip. a Age 2 years 8 months. Note the bilateral crossbite. b Arnold expander in place. c Crossbite correction after 3 months brought on by the outward movement of the lateral palatal segments

Fig. 7.9 a–h. Correction of anterior and

posterior crossbite in the deciduous and mixed dentition in a severely scarred palate. a Complete unilateral cleft lip and palate, unoperated. b Palatal segments in contact. c Palatal cleft closed at 6 months of age: von Langenbeck procedure was used to close a very wide cleft space. d Bilateral buccal and anterior crossbite. e Arnold expander is in place. f Crossbite is still present due to excessive scar tissue. g Expander is fully extended in the early mixed dentition. h Anterior crossbite was corrected, but the buccal crossbite is still present. Comments: The severely scarred palate prevents the lateral movement of the medially positioned palatal segments. Scars can only be stretched a slight amount, and if that amount is exceeded the bony segments will not move and instead the teeth will respond to the orthodontic forces. Should the teeth be tipped outwardly they will have to be permanently retained by a bridge or by teeth splinting

a

b

c

d

e

f

g

h

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a Fig. 7.10 a, b. Anterior and buccal crossbite correction the mixed dentition. a Anterior crossbite was due to palatally dis-

placed deciduous teeth with premaxillary segment and not to growth deficiency. The buccal teeth are in crossbite as a result of the lesser palated segment being palatally displaced. This picture has the maxillary anterior teeth in crossbite; the lower anterior teeth are shown while the upper teeth are hidden.

b b A fixed palatal expander with finger springs is used to expand

the arch and advance the anterior teeth. In most instances it is unnecessary to disocclude the anterior teeth to move them forward. Buccal expansion depends on the ability of the lesser bony segment to move outward. Retention of the bony correction is essential

Fig. 7.11. a Orthodontic correction of

an anterior and posterior crossbite in the permanent dentition. Anterior dental crossbite does not necessarily mean that the maxilla is anteroposteriorly deficient in size and requires a LeFort I advancement. In this case the maxillary dentition was advanced orthodontically with the missing lateral incisor space opened to achieve interarch congruency. The expansion was maintained by complete arch splinting. b A severely ventroflexed premaxilla was uprighted during the deciduous dentition. In order to maintain the correction after the deciduous anterior teeth are lost a fixed palatal retainer with an acrylic button is placed on the premaxilla’s palatal incline

a

b

Chapter 7

a Fig. 7.12 a, b. Repaired bilateral cleft lip and palate. An anteri-

or openbite and retruded premaxilla resulting from inadequate orthodontic and surgical planning. a A slight anterior openbite was present at 8 years of age at which time a secondary alveolar bone graft was performed. The orthodontist attempted to close the lateral incisor spaces by bringing the cuspids mesially, while retracting the central incisors. This created a more severe openbite and an anterior crossbite. b The orthodontic mechanics were reversed. The lateral incisor spaces were opened and the

lary arch expansion when the deciduous dentition is completely erupted and when the children can be easily managed. A three-phase treatment is followed: (1) Buccal crossbite is corrected at 4–6 years; (2) anterior teeth are aligned at 8–9 years; and (3) final orthodontics is utilized at 11-plus years. Crossbite correction by moving palatal segments laterally in the presence of extensive palatal scarring is difficult and often unsuccessful. Extensive mucoperiosteal undermining, leaving wide denuded palatal bone, was necessary to close the wide palatal cleft at 6 months of age. Uniting the lip moved the palatal segments together (molding action) into good arch approximation. Palatal scar contracture moved the buccal segments farther medially, placing the buccal teeth in crossbite. The anterior dental crossbite does not necessarily reflect diminished anteroposterior maxillary growth but, rather, malposition of the premaxillary teeth of the greater segment.

7.2.1.1 Unilateral Cleft Lip and Palate Deciduous and Mixed Dentition. When the smaller segment’s alveolar process is contained within the premaxillary alveolar segment of the larger segment, a dental crossbite occurs between the maxillary and mandibular teeth. Dental dysplasia (eruption of a tooth out of position) may or may not coexist with segmental dislocation. A simple crossbite of one tooth

Lip Pits

b

central incisors were advanced into an ideal overbite and overjet relationship. One of the bone grafts had to be redone. Comments: When the buccal occlusion is class I it is always better to keep the lateral incisor space open in both bilateral and unilateral cleft cases. There are occasions when a mandibular central incisor will need to be extracted in order to avoid flaring the maxillary central incisors and to obtain a proper occlusion. An anterior fixed bridge will stabilize the arch and replace the missing maxillary lateral incisors

may be due to its malposition rather than to the palatal segment’s collapse. The most frequent crossbite is brought on by the mesioangular rotation of the lesser segment rather than by ectopic tooth eruption. Total buccal crossbite is seen less frequently but is generally present when the palatal tissue is scarred. In either case, the same helix type of palatal expander can be utilized and correction achieved within 2 to 4 months. Anterior movement of the deciduous central incisors often requires lingual undercuts either by orthodontic bands with lugs or by direct lingual shelf bonding to stabilize the anterior activated palatal finger springs. A fixed palatal retainer can hold the correction until the second stage of orthodontic therapy is initiated. There is no way to predict the return of a crossbite in the absence of permanent retention. Bone grafting across the alveolar cleft does not guarantee retention of the corrected arch form. Permanent Dentition. In Class I and Class III cases it is usually preferable to open the missing lateral incisor space with the expectation of utilizing a fixed bridge to stabilize the corrected arch form and replace the missing tooth. In Class II cases it may be possible to encourage the cuspid to erupt through the alveolar bone graft in the lateral incisor space, which eliminates the need for extensive orthodontics and bridgework. The cuspid may need to be splinted to the central incisor in order to maintain the corrected arch form.

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7.2.1.2 Bilateral Cleft Lip and Palate First Stage. Between the ages of 4 to 6 years, the premaxilla is usually ventroflexed and overlaps one or both lateral palatal segments, which may be in partial or complete buccal crossbite. As in unilateral cases, treatment of bilateral cleft lip/palate necessitates moving bony segments into the surrounding muscle ring. If the premaxilla is to be moved forward, bands with lingual lugs are placed on the deciduous central incisors. A fixed helix-type palatal expander with anterior-activated finger springs is cemented to the second deciduous molars. The finger springs are positioned under the central incisor-banded lugs for retention. The premaxilla is uprighted prior to correcting the buccal crossbite. The anterior and buccal crossbite correction can be completed within 6 months. As the premaxilla and lateral palatal segments are moved outward, the anterior cleft space is uncovered. A fixed palatal retainer with an acrylic anterior extension to cover the anterior cleft space is placed and kept in position until the alveolar cleft is bone-grafted and all fistulas are surgically closed. Permanent complete palatal retention is necessary, even after alveolar bone grafting. A premaxillary retainer must be placed when the deciduous anterior teeth are lost. Second Stage. At 7–8 years of age, when the deciduous incisor teeth are replaced by permanent incisors, the anterior crossbite may have to be retreated. The incisors may be rotated and malpositioned. Orthodontic brackets are placed in the upper arch to support a labile arch wire, which will be utilized to reposition the incisor teeth and reduce the premaxillary overbite. A pontic tooth with band is placed on the arch wire to achieve a more pleasing aesthetic result. The premaxilla needs to be properly aligned with the lateral palatal segments prior to alveolar bone grafting; this procedure may be performed between 7 and 9 years of age. A lateral incisor as well as a cuspid may erupt through the area of new bone formation. Third Stage. Children at 10+ years of age are treated as any other child. The many malocclusion possibilities render it impossible to develop treatment plans for each contingency; instead, basic treatment problems are discussed. 1. Class I malocclusion (with anterior and/or buccal crossbite): The crossbite generally is due to lingual bony displacement. The upper arch should be advanced and expanded. If there is sufficient arch length, the missing lateral incisor area is left open. In arch shortage cases, it may be preferable to move the cuspid adjoining the space into the lateral incisor area, rather than extract the first bicuspid on that side. A number of variations of treatment exist according to tooth size and location.

2. Class II malocclusion: The anterior overjet may be corrected by retraction of the premaxillary central incisors in bilateral cleft lip and/or cleft palate cases. If one or both lateral incisors are missing, it may be best to place the adjoining cuspid in that space and extract either the opposite lateral incisor or the first bicuspid. 3. Class III malocclusion: An anterior crossbite does not necessarily signify that a Class III malocclusion exists. In some cases the anterior teeth can be advanced without excessively increasing their axial inclination. A true depressed midface with poor vertical and anteroposterior development requires midfacial lengthening and advancement. Segmental surgery may have to be utilized to overcome palatal width problems caused by excessive scarring.

7.2.1.3 Use of Orthopedic Forces to Correct Midfacial Recession Developing anterior crossbites in either mixed or permanent dentition can be corrected using orthopedic protraction forces. These forces must average 800 gm per side and pull downward and forward off hooks placed between the lateral incisor and cuspid. The force needs to be applied 12 h per day. With good cooperation, 5–10 mm of midfacial advancement can be accomplished. The preferred facial mask is the Delaire type.

7.2.2

Supernumerary (Extra) Teeth, Missing Teeth, and Aplasia (Malformed Teeth)

This occurs more frequently in children with cleft lip and/or palate than in other figuration of the nasal floor. (Figs. 7.5, 7.6, 7.13, 7.14). Bishara and coworkers [22] studied untreated adults in India who had clefts of the lip and alveolus only, unilateral cleft lip and palate, and bilateral cleft lip and palate. They observed that the maxilla and cranial base were not different from a matched normal population, but that the relation of the maxilla and mandible to the cranial base varied according to cleft type. Moss [23, 24] Blaine [25], Dahl [26], and Krogman et al. [27] have stated that the cranial base in cleft palate patients differed in both size and shape from noncleft individuals. The incidence reported in different articles has varied because it is difficult to distinguish between variations rooted in congenital causes and those related to surgery [30]. Recently, it has been observed that supernumerary teeth are more common in the deciduous dentition. Moreover, the incidence of supernu-

Chapter 7

Fig. 7.13. The left central and lateral incisor in the line of an alveolar cleft areas reduced in size

Lip Pits

Zilberman [55], from a study on clefts of the lip and alveolar structures, and Mirsa and colleagues [56], after investigating clefts of the lip and palate, reported that unilateral clefts are more frequent on the left side and are more common in males than in females. The incidence of dental malocclusion reported in patients with cleft lip and/or palate varied widely in studies by Huddart and Bodenham [57], Hellquist et al. [58], Dahl et al. [59], Norden and associates [60], Bergland and Sidhu [21], Nylen and coworkers [61], Ranta and colleagues [62], and Hellquist and Skoog [63]. This may be because the patients had varying types of clefts and their cases were recorded at different ages. Rehrman and coauthors [64] found the incidence of malocclusion in the mixed dentition to be twice that in the deciduous dentition. In cases of cleft palate only, Ranta and colleagues [65] found only a slight increase in anterior crossbite at the transition from the deciduous to the mixed dentition. A noticeable increase in the incidence of anterior crossbite in the mixed dentition, in cases of complete unilateral clefts of the lip and/or palate, was reported by Bergland and Sidhu [21]. This was irrespective of the arch configuration in the deciduous dentition. They also reported that palatal segments stabilized early after lip repair and that further collapse was the exception. However, contrary to the findings just cited, Nylen and coworkers [61] found no increase in the frequency of anterior crossbite in their mixed-dentition group.

7.2.3

Fig. 7.14. Tooth abnormalities. Coalescence of the right deciduous central and lateral incisors in a right unilateral cleft of the lip and alveolus

merary teeth is greatest in cases of cleft lip only and decreases as the extent of the cleft increases. The relationship is the opposite in cases of aplasia; the incidence of aplasia is lowest for cleft lip only and cleft palate only and increases in proportion to the extent or complexity of the cleft [31–35]. In conditions of facial clefting, dental development is, except for the third molars, delayed for all teeth, both maxillary and mandibular [31, 32]. Asymmetrical development of tooth pairs, with delayed development on the cleft side, was recorded in approximately half of a group of children with congenital lip and/ or palate clefts [33]. This supports other observations that eruption is delayed in both dentitions [35–54].

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Caries

Dahl et al. [66] reported the incidence of caries, gingivitis, and dental abnormalities in preschool children with cleft lip and/or palate in Stockholm, Sweden. Oral health was studied in 49 children 5–6 years old with clefts of the lip and/or palate (CL/P) and 49 healthy children matched for sex and age. The results showed a statistically significant increase in the prevalence and activity of caries among the CL/P children. The average number of decayed and filled tooth surfaces in the cleft group was 7.0 compared with 3.9 in the control group (p